Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
gap junction protein, beta 1
Synonyms:
Cx32,  connexin 32,  Gjb-1,  connexin-32

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gjb1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Gjb1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity ORPHA:101075
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral axonal d... OMIM:302800
X-Linked Progressive Cerebellar Ataxia
Axonal loss ORPHA:1175

The table below shows human diseases predicted to be associated to Gjb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:607734
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating motor neuropathy, Demyelinating s... ORPHA:208981
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology, Leukodystrophy, Peripheral demyelination DECIPHER:59
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:606482
Charcot-Marie-Tooth Disease, Type 4J
Onion bulb formation, Axonal loss, Decreased motor nerve conduction velocity, Peripheral hypomyel... OMIM:611228
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:214400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decr... OMIM:601098
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Motor conduction block, Decreased nerve conduction velocity, ... ORPHA:2932
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Segmental peripheral demyelination/remye... OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Null Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy, Demyelinating peripheral neuropathy, D... ORPHA:280234
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Abnormality of somatosensory evoked potentials, Diffuse peripheral demyel... ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:118210
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:180800
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... OMIM:605253
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating motor neuropathy, Demyelinating sensory neuropathy OMIM:182815
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:118200
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Axonal degeneration/regeneration, Segmental peripheral demyelination, Segme... OMIM:606483
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:118220
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Irr... OMIM:601382
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination, Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:614895
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral axonal d... OMIM:607706
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... OMIM:608340
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:145900
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:605588
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy OMIM:610100
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609311
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:601455
Charcot-Marie-Tooth Disease, Type 4C
Segmental peripheral demyelination, Peripheral axonal degeneration, Decreased motor nerve conduct... OMIM:601596
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination OMIM:249900
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Onion bulb formation, Peripheral demyelination OMIM:615185
Charcot-Marie-Tooth Disease Type 4G
Motor conduction block, Decreased motor nerve conduction velocity, Demyelinating peripheral neuro... ORPHA:99953
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... DECIPHER:29
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Peripheral demyelination, Decreased compound muscle action potential amplitude OMIM:618279
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of large periphe... OMIM:605285
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination OMIM:311070
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Optic atrophy, Decr... OMIM:609260
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:604563
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased sensory nerve conductio... OMIM:608323
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, De... OMIM:618184
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Axonal loss, Peripheral axonal degeneration, Decreased number of small... ORPHA:101097
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Charcot-Marie-Tooth Disease, Type 4K
Peripheral demyelination, Axonal loss OMIM:616684
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Peripheral demyelination OMIM:607736
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:600882
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Decreased nerve conduction velocity, Peripheral axonal neuropathy ORPHA:101082
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Demyelinating peripheral neuropathy, Acute demyelinati... ORPHA:101081
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells ORPHA:65684
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Abnormal motor evoked potentials, Demyelinating sensory neuropathy, Decreased nerve conduction ve... ORPHA:99939
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Decreased motor nerv... OMIM:607831
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
EEG abnormality, Axonal loss, Gliosis, Abnormal upper motor neuron morphology, Peripheral demyeli... OMIM:221770
Krabbe Disease
Optic atrophy, EEG abnormality, CNS demyelination, Decreased nerve conduction velocity, Periphera... OMIM:245200
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Neuronopathy, Distal Hereditary Motor, Type Vc
Decreased compound muscle action potential amplitude OMIM:619112
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Decreased compound muscle action potential amplitude, Compound muscle action potential amplitude ... OMIM:616040
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, EEG with generalized slow activity ORPHA:2386
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Motor axonal neuropathy, Axonal loss, Dec... ORPHA:98856
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Decreased nerve conduction velocity, Myelin outfoldings OMIM:615284
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Peripheral hypomyelina... OMIM:604168
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude OMIM:605726
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Gliosis, Degeneratio... OMIM:604484
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Abnormality of peripheral nerve conduction, Decreased amplitude of sensory action potentials, Dec... ORPHA:90103
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination ORPHA:71211
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Onion... OMIM:607684
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy ORPHA:497764
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity OMIM:620111
Abetalipoproteinemia
CNS demyelination, Peripheral demyelination OMIM:200100
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Orthostatic hypotension due to autonomic dysfunction, Leukodystrophy, Autonomic bladder dysfuncti... OMIM:169500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Decr... OMIM:619279
Leukodystrophy, Hypomyelinating, 18
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Abnormal motor nerve co... OMIM:618404
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, EEG abnormality, Motor axonal neuropathy, Sensory axonal neuropathy, Decreased ner... ORPHA:457205
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Motor conduction block, Demyelinating peripheral neuropathy, Decreased... ORPHA:99948
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:613287
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Peripheral axonal neuropathy, Optic atrophy OMIM:615035
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Peripheral axonal neuropathy OMIM:608895
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Leukodystrophy, Failure to thrive, Decreased liver function, Peripheral demyelination OMIM:614877
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity ORPHA:101075
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Onion bulb formation, Decreased motor nerve conduction velocity, Demyelinating peripheral neuropa... OMIM:218000
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Demyelinating peripheral... ORPHA:101077
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Peripheral demyelination, Axonal loss OMIM:617672
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Chronic axonal neuropathy OMIM:606595
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Decreased nerve conduction velocity OMIM:614932
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Elevated gamma-glutamyltransf... OMIM:614480
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:600361
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor ORPHA:98890
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity OMIM:183050
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Fa... OMIM:232700
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity OMIM:615575
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Peripheral demyelination, Optic atrophy OMIM:609033
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity ORPHA:1368
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Decreased number of large p... OMIM:162400
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Leukodystrophy, Peripheral axonal neuropathy OMIM:619851
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Motor axonal neuropathy, Axonal loss OMIM:620068
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:615490
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Trigeminal Neuralgia
CNS demyelination, Peripheral demyelination, Cranial nerve compression ORPHA:221091
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Leukodystrophy, Onion bulb formation, CNS hypomyelination OMIM:610532
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential OMIM:618400
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity ORPHA:352675
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Demy... ORPHA:99950
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity ORPHA:276435
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Decr... OMIM:201300
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity ORPHA:101078
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Axonal degeneration/re... OMIM:614436
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Axonal loss OMIM:614455
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
Tangier Disease
Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination OMIM:205400
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity ORPHA:1188
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude OMIM:619519
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Peripheral axonal degeneration, Abnormal lower motor neuron ... OMIM:602433
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral axonal d... OMIM:302800
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Decreased motor nerve conduction velocity, Leukodystrophy, Cerebral hypomyelinatio... OMIM:608804
Autosomal Dominant Spastic Paraplegia Type 17
Abnormal motor nerve conduction velocity ORPHA:100998
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity OMIM:302802
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity OMIM:619862
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Acute demyelinating polyneuropathy ORPHA:3115
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Peripheral demyelination, Optic atrophy OMIM:250100
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, CNS demyelination, Peripheral demyelination, EEG ... ORPHA:206448
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Congenital Myopathy 10A, Severe Variant
Abnormal motor nerve conduction velocity, Facial palsy OMIM:614399
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity ORPHA:2926
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Demyelinating peripheral neuropathy, Abnormal autonomic nervous system physiology, Absent brainst... OMIM:609136
Wild Type Abeta2M Amyloidosis
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Axonal loss ORPHA:85446
Cednik Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:66631
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Optic atrophy OMIM:612674
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... ORPHA:79301
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve ORPHA:90117
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology, Sensory ... ORPHA:139578
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity, Delayed myelination ORPHA:319514
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Abnormality of peripheral nerves, Abnormal peripheral... ORPHA:168563
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude OMIM:606353
Glutaric Acidemia I
Delayed myelination, Failure to thrive, Hypoglycemia, Hepatomegaly, Symmetrical progressive perip... OMIM:231670
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Demyelinating peripheral neuropathy, Basal lamina onion bulb formation ORPHA:2821
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Molybdenum Cofactor Deficiency, Complementation Group A
Sulfite oxidase deficiency, Axonal loss, Reduced xanthine dehydrogenase level, Aldehyde oxidase d... OMIM:252150
Gilbert Syndrome
Jaundice, Hepatic failure, Elevated hepatic transaminase OMIM:143500
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity OMIM:118300
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Elevated circulating alanine aminotransferase concentration, Optic atrophy, Elevated circulating ... OMIM:271245
Spinal Muscular Atrophy, X-Linked 2
Facial palsy, Decreased compound muscle action potential amplitude, Degeneration of anterior horn... OMIM:301830
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:603472
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Decreased nerve conduction velocity, Peripheral axonal neuropathy ORPHA:435387
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Abnormality of somatosensory evoked potentials, Optic atrophy ORPHA:98755
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Motor axonal neuropathy ORPHA:48431
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Weight loss, Decreased motor nerve conduction velocity, Demyelinating peripheral neuro... ORPHA:298
Spastic Ataxia, Charlevoix-Saguenay Type
Onion bulb formation, Decreased motor nerve conduction velocity, Hypermyelinated retinal nerve fi... OMIM:270550
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination, Optic atrophy ORPHA:352682
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal degeneration, Degener... OMIM:604320
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers OMIM:614116
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93476
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulatin... OMIM:619484
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity OMIM:159550
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circ... OMIM:235555
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Demyelinating sensory neuropathy, Optic nerve hypoplasia, De... ORPHA:101085
Multiple Sulfatase Deficiency
CNS demyelination, Peripheral demyelination OMIM:272200
Lethal Ataxia With Deafness And Optic Atrophy
Abnormality of somatosensory evoked potentials, Optic atrophy, Decreased motor nerve conduction v... ORPHA:1187
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Abnormal CNS myelination, Prolonged brainstem aud... ORPHA:206443
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Weight loss, Jaundice, Pancreatitis, Hepatocellular carcinoma, Elevated hepatic transa... ORPHA:65682
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Elevated circulating alanine aminotransfe... OMIM:256810
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Decreased compound muscle action potential amplitude, Facial palsy OMIM:603511
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Gliosis, Optic atrophy OMIM:256600
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Amyotrophic lateral ... OMIM:606070
Bile Acid Synthesis Defect, Congenital, 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... OMIM:613812
Molybdenum Cofactor Deficiency, Complementation Group B
Gliosis, Peripheral demyelination, Axonal loss OMIM:252160
Low Phospholipid-Associated Cholelithiasis
Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, Hepatocellular c... ORPHA:69663
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated hepatic transaminase, Elevated circulating alkaline phosphatase con... OMIM:214900
Infantile Neuroaxonal Dystrophy
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormal autonomic nervous system phys... ORPHA:35069
Peho Syndrome
Hypsarrhythmia, Peripheral dysmyelination, Optic atrophy OMIM:260565
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal autonomic nervous system physiology, Abnormal nerve conduction velocity OMIM:243000
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity OMIM:270685
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers OMIM:604360
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:616688
Cholestasis, Intrahepatic, Of Pregnancy, 1
Jaundice, Elevated hepatic transaminase, Abnormal liver function tests during pregnancy, Intrahep... OMIM:147480
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Decreased nerve conduction velocity, Decreased amplitude of sensory ac... OMIM:618733
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Hepatic fibrosis, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... OMIM:616278
Gallbladder Disease 1
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Pancreatitis, Elevated hepatic transaminase, ... OMIM:600803
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Sensory axonal neuropathy, Motor axonal n... OMIM:256850
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... OMIM:607765
Spastic Ataxia 5, Autosomal Recessive
Onion bulb formation OMIM:614487
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity OMIM:618356
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:619026
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly OMIM:617068
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase c... OMIM:214950
Congenital Bile Acid Synthesis Defect Type 2
Hepatic failure, Jaundice, Elevated hepatic transaminase, Abnormal circulating enzyme concentrati... ORPHA:79303
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity ORPHA:1933
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... OMIM:602347
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy OMIM:615419
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Peri... OMIM:256840
Optic Atrophy 11
Optic atrophy, EEG with focal sharp waves, Optic nerve hypoplasia, Facial diplegia, Decreased sen... OMIM:617302
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Jaundice, Failure to thrive, Hypoglycemia, Severe demyelination of the white matte... ORPHA:79282
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, EEG abnormality, Hypsarrhythmia, Decreased nerve conduction velocity, Optic disc p... ORPHA:485421
Isolated Biliary Atresia
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Small for gestational age, Jaundice, Elevate... ORPHA:30391
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity OMIM:238970
Autosomal Recessive Spastic Paraplegia Type 55
Decreased sensory nerve conduction velocity, Optic neuropathy, Onion bulb formation, Optic atrophy ORPHA:320375
Xeroderma Pigmentosum, Complementation Group B
Abnormal CNS myelination, Decreased nerve conduction velocity, Optic atrophy OMIM:610651
Biliary Atresia, Extrahepatic
Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Jaundice, Elevated hepatic tra... OMIM:210500
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Motor axonal neuropathy, Abnormal peripheral myelination, Abnormal myelination, Decreased distal ... ORPHA:466768
Sialidosis Type 1
Decreased nerve conduction velocity, EEG abnormality ORPHA:812
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormality of peripheral nerves, Axonal degeneration, Abnormal sensory nerve conduction velocity ORPHA:88628
Lethal Congenital Contracture Syndrome 5
EEG with burst suppression, Decreased nerve conduction velocity OMIM:615368
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Hepatic failure, Optic atrophy, Demyelinating peripheral n... ORPHA:255210
Metachromatic Leukodystrophy, Late Infantile Form
Leukodystrophy, Decreased nerve conduction velocity, Optic atrophy ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Leukodystrophy, Decreased nerve conduction velocity, Optic atrophy ORPHA:309263
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Decreased number of large peripheral myelinated nerve fibers, Axo... OMIM:208920
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Optic atrophy, Optic... OMIM:601152
Yuan-Harel-Lupski Syndrome
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity OMIM:616652
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Splenomegaly, Small for gestat... ORPHA:567983
Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93474
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity ORPHA:397744
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity ORPHA:477817
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Delayed peripheral myelination ORPHA:464282
Budd-Chiari Syndrome
Cirrhosis, Weight loss, Jaundice, Peritonitis, Elevated hepatic transaminase, Cholecystitis, Hepa... ORPHA:131
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis ORPHA:600
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Decreased nerve conduction velocity ORPHA:329478
Autosomal Recessive Spastic Paraplegia Type 35
Peripheral demyelination, Optic atrophy ORPHA:171629
Combined Oxidative Phosphorylation Defect Type 39
Hypsarrhythmia, Decreased nerve conduction velocity, EEG abnormality, Optic disc pallor ORPHA:565624
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
EEG with multifocal slow activity, Abnormal myelination ORPHA:289266
Combined Oxidative Phosphorylation Defect Type 7
Facial diplegia, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neurop... ORPHA:254930
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed myelination, Decreased body weight, Leukodystrophy, Jaundice, Neurofibromas, Elevated hep... OMIM:619475
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Small for gestational age, CNS demyelination, Failure to thrive... OMIM:220111
Spinocerebellar Ataxia 1
Optic atrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action p... OMIM:164400
Hereditary Sensory And Autonomic Neuropathy Type 1
Decreased amplitude of sensory action potentials, Abnormality of the autonomic nervous system, Mo... ORPHA:36386
Metachromatic Leukodystrophy, Adult Form
Orthostatic hypotension due to autonomic dysfunction, Leukodystrophy, Decreased nerve conduction ... ORPHA:309271
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity OMIM:603516
Neuronopathy, Distal Hereditary Motor, Type X
Decreased compound muscle action potential amplitude OMIM:620080
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:616192
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... ORPHA:909
East Syndrome
Peripheral axonal neuropathy, Peripheral hypomyelination ORPHA:199343
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy ORPHA:206436
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity OMIM:613640
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Gliosis, Cerebral dysmyelination OMIM:261515
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Abnormal myelination, Gliosis ORPHA:280210
Non-Specific Early-Onset Epileptic Encephalopathy
Hypsarrhythmia, EEG with multifocal slow activity, Abnormal myelination, Optic atrophy ORPHA:442835
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Abnormal autonomic nervous system physiology, Axonal loss, Decreased distal sensory nerve action ... OMIM:614575
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Decreased amplitude of sensory action potentials, Op... OMIM:229300
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:585
Cockayne Syndrome B
Patchy demyelination of subcortical white matter, Optic atrophy, Abnormal peripheral myelination,... OMIM:133540
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy ORPHA:101076
Charcot-Marie-Tooth Disease Type 4C
Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Decreased motor nerve cond... ORPHA:99949
Charcot-Marie-Tooth Disease Type 1E
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity ORPHA:90658
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy OMIM:615663
Cockayne Syndrome A
Patchy demyelination of subcortical white matter, Optic atrophy, Abnormal peripheral myelination,... OMIM:216400
Insensitivity To Pain, Congenital, With Anhidrosis
Abnormal autonomic nervous system physiology, Decreased number of small peripheral myelinated ner... OMIM:256800
Bickerstaff Brainstem Encephalitis
Acute demyelinating polyneuropathy, EEG abnormality, Decreased motor nerve conduction velocity, A... ORPHA:79138
Hurler Syndrome
Abnormal nerve conduction velocity ORPHA:93473
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, EEG abnor... ORPHA:456312
Cockayne Syndrome Type 3
Abnormality of peripheral nerve conduction, Demyelinating peripheral neuropathy, Abnormal myelina... ORPHA:90324
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy OMIM:614863
Charcot-Marie-Tooth Disease Type 4B2
Myelin outfoldings, Optic atrophy, Decreased distal sensory nerve action potential ORPHA:99956
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:90321
Poliomyelitis
Abnormal motor nerve conduction velocity ORPHA:2912
Friedreich Ataxia
Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Optic atrophy ORPHA:95
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Chronic axonal neuropathy, Peripheral hypomyelination OMIM:612780
Cockayne Syndrome
Patchy demyelination of subcortical white matter, Optic atrophy, Demyelinating peripheral neuropa... ORPHA:191
Chediak-Higashi Syndrome
Decreased nerve conduction velocity OMIM:214500
Japanese Encephalitis
EEG abnormality, Decreased motor nerve conduction velocity, EEG with burst suppression, Paucity o... ORPHA:79139
Wilson Disease
Decreased nerve conduction velocity, Mixed demyelinating and axonal polyneuropathy OMIM:277900
Bohring-Opitz Syndrome
Failure to thrive, Hyperechogenic pancreas, Delayed peripheral myelination OMIM:605039
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential OMIM:606071
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Peripheral axonal neuropathy OMIM:606002
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Delayed CNS myelination, Gliosis, Delayed myelination OMIM:615273
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Decreased number of large peripheral myelinated nerve fibers OMIM:223900
Chédiak-Higashi Syndrome
Decreased nerve conduction velocity ORPHA:167
Metachromatic Leukodystrophy
Decreased nerve conduction velocity ORPHA:512
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Choreoacanthocytosis
Decreased number of peripheral myelinated nerve fibers, Elevated circulating alanine aminotransfe... ORPHA:2388
Mucopolysaccharidosis Type 2
Papilledema, Optic atrophy, Decreased nerve conduction velocity ORPHA:580
Thyrotoxic Periodic Paralysis
Abnormality of peripheral nerve conduction ORPHA:79102
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Delayed myelination, Optic atrophy, Axonal loss, EEG abnormality, Abnormal myelination, Gliosis, ... ORPHA:404454
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal myelination, Astrocytosis ORPHA:309854
Monosomy 18Q
Abnormal myelination ORPHA:1600
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Abnormality of peripheral nerve conduction,... ORPHA:642
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity ORPHA:285
Friedreich Ataxia 2
Abnormality of peripheral nerve conduction OMIM:601992
Degcags Syndrome
Abnormal myelination OMIM:619488
Orofaciodigital Syndrome Type 14
Abnormal myelination ORPHA:434179
X-Linked Progressive Cerebellar Ataxia
Axonal loss ORPHA:1175

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gjb1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gjb1.

No publications found that use IMPC mice or data for Gjb1.

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MGI Allele Allele Type Produced
Gjb1tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Gjb1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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