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Gene: Alg10b MGI:2146159

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Gene Summary

Name:
ALG10 alpha-1,2-glucosyltransferase
Synonyms:
nse5,  LOC380959,  Deaf1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal pericardium morphology Alg10btm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal embryo development Alg10btm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal neural tube closure Alg10btm1.1(KOMP)Vlcg HOM E9.5 0.00
preweaning lethality, complete penetrance Alg10btm1.1(KOMP)Vlcg HOM   Early adult 0.00
pale yolk sac Alg10btm1.1(KOMP)Vlcg HOM E9.5 0.00
edema Alg10btm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal hindbrain development Alg10btm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal midbrain development Alg10btm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal optic vesicle formation Alg10btm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal pharyngeal arch morphology Alg10btm1.1(KOMP)Vlcg HOM E9.5 0.00
preweaning lethality, complete penetrance Alg10btm1(KOMP)Vlcg HOM   Early adult 0.00
bleb Alg10btm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal visceral yolk sac morphology Alg10btm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal otic vesicle morphology Alg10btm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal embryo size Alg10btm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal vitelline vasculature morphology Alg10btm1.1(KOMP)Vlcg HOM E9.5 0.00
increased body temperature Alg10btm1(KOMP)Vlcg HET Early adult 9.39×10-07
embryonic growth retardation Alg10btm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal limb bud morphology Alg10btm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal heart morphology Alg10btm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal forebrain development Alg10btm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal neural tube morphology Alg10btm1.1(KOMP)Vlcg HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Alg10btm1.1(KOMP)Vlcg HOM   E12.5 0.00
abnormal somite shape Alg10btm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal allantois morphology Alg10btm1.1(KOMP)Vlcg HOM E9.5 0.00

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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.

Eye Morphology

VIP of right fundus

13 Images

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Eye Morphology

VIP of right eye

13 Images

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Eye Morphology

VIP of left eye

13 Images

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Eye Morphology

VIP of left fundus

13 Images

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Human diseases caused by Alg10b 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 Alg10b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Long Qt Syndrome 2
OMIM:613688

The table below shows human diseases predicted to be associated to Alg10b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment OMIM:613391
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Dominant 65
Abnormal vestibular function, Progressive hearing impairment OMIM:616044
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment OMIM:618013
Deafness, Autosomal Dominant 83
Bilateral sensorineural hearing impairment OMIM:619808
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Recessive 120
Sensorineural hearing impairment OMIM:620238
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Deafness, Autosomal Dominant 86
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus OMIM:620280
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Tinnitus OMIM:608224
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short stature, Short neck, Clinodactyly, Growth delay,... OMIM:615583
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Short stature, Conductive hearing impairment, Sensorineural he... ORPHA:1131
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... OMIM:600501
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Short stature, Abnormality of the mi... OMIM:609166
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... OMIM:602588
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Short sta... ORPHA:50815
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Tinnitus, Progressive hearing impairment OMIM:193005
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Sensorineural... ORPHA:52368
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Skin ulcer, Spinal dysraphism ORPHA:1114
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Tapered finger, Sensorineural hearing impairment, Protruding e... ORPHA:435938
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Fryns Microphthalmia Syndrome
Neural tube defect, Macrotia OMIM:600776
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Extern... ORPHA:2162
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Finger syndact... ORPHA:1908
Primary Erythromelalgia
Hypothermia ORPHA:90026
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, H... OMIM:113650
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Toe syndactyly, Ventricular septal defect, Palpebral edema, Camptodactyly of f... ORPHA:261337
Bor Syndrome
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... ORPHA:107
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Ventricular septal defect, Anterior encephalocele, Coloboma, Foot oligodactyly, Holo... OMIM:601357
Branchiootic Syndrome
Branchial fistula, Sensorineural hearing impairment, Atresia of the external auditory canal, Cond... ORPHA:52429
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Bowing of the long bones, Toe syndactyly, Ventricular septal defect, Arachnoda... ORPHA:261330
Joubert Syndrome 15
Coloboma, Preaxial polydactyly, Exencephaly OMIM:614464
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Optic disc coloboma, Dehydration, Hearing impairment ORPHA:2260
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing... OMIM:619260
Alg3-Cdg
Abnormal pinna morphology, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Neural tu... ORPHA:79321
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Conductive hearing impai... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Conductive hearing impai... ORPHA:352665
Blepharocheilodontic Syndrome 1
Neural tube defect, Clinodactyly, Cutaneous syndactyly OMIM:119580
Riboflavin Deficiency
Hypothermia OMIM:615026
8Q24.3 Microdeletion Syndrome
Branchial cyst, Micromelia, Short neck, Finger clinodactyly, Clinodactyly of the 5th finger, Atri... ORPHA:508488
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Polyhydramnios, Conductive hearing impairment, Severe sensorineural hearing impai... OMIM:620186
Deafness, Unilateral
Unilateral deafness OMIM:125000
Isolated Posterior Meningocele
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... ORPHA:268810
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Brachydactyly, Posteriorly rotated ears, Prominent antihelix, Branchial anomaly, Short palm, Prom... ORPHA:466950
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Sensorineural hearing impairment, Spinal dysraphism, Hypoplastic left heart, Aorti... OMIM:617660
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus, Microtia, Conductive hearing impairme... ORPHA:861
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia ORPHA:3240
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Polyhydramnios, Myelomeningocele, Hy... ORPHA:63259
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... ORPHA:206436
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Branchiooculofacial Syndrome
Posteriorly rotated ears, Proximal placement of thumb, Short neck, Postnatal growth retardation, ... OMIM:113620
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Hydrocephalus, Sensorineural hearing impairme... OMIM:164210
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Witteveen-Kolk Syndrome
Uplifted earlobe, Polyhydramnios, Proximal placement of thumb, Protruding ear, Short palm, Clinod... OMIM:613406
Idiopathic Congenital Hypothyroidism
Hypothermia ORPHA:95717
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia, Bila... OMIM:600145
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly, Hand oligodactyly OMIM:207770
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... ORPHA:90321
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia OMIM:614498
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia OMIM:245400
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... ORPHA:909
Semilobar Holoprosencephaly
Short stature, Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Growth... ORPHA:220386
Alobar Holoprosencephaly
Short stature, Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Growth... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Growth... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Growth... ORPHA:93924
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia ORPHA:226313
Menkes Disease
Hypothermia OMIM:309400
Familial Thyroid Dyshormonogenesis
Hypothermia ORPHA:95716
Cockayne Syndrome A
Cerebellar atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased ner... OMIM:216400
Timothy Syndrome
Hypothermia OMIM:601005
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Abnormality of the stapes, Overlapping fingers, Overlapping toe, Short... ORPHA:798
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Meningococcal Meningitis
Hypothermia ORPHA:33475
Congenital Enterovirus Infection
Hypothermia ORPHA:292
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia OMIM:618775
Genetic Transient Congenital Hypothyroidism
Hypothermia ORPHA:226316
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia ORPHA:159
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypothermia OMIM:618493
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypothermia ORPHA:26793
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia OMIM:618329
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia OMIM:251880
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia ORPHA:90673
Dopamine Beta-Hydroxylase Deficiency
Hypothermia ORPHA:230
3-Hydroxy-3-Methylglutaric Aciduria
Hypothermia ORPHA:20
Tbck-Related Intellectual Disability Syndrome
Hypothermia ORPHA:488632
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Talipes equinovarus OMIM:601374
Alexander Disease
Hypothermia ORPHA:58
Ethylene Glycol Poisoning
Hypothermia ORPHA:31826
Isolated Thyroid-Stimulating Hormone Deficiency
Hypothermia ORPHA:90674
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypothermia ORPHA:17
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypothermia ORPHA:79282
Neuroleptic Malignant Syndrome
Hypothermia ORPHA:94093
Mitochondrial Dna-Associated Leigh Syndrome
Hypothermia ORPHA:255210
Menkes Disease
Hypothermia ORPHA:565
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia OMIM:218700
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypothermia ORPHA:226307
Occipital Horn Syndrome
Hypothermia ORPHA:198
Marburg Hemorrhagic Fever
Hypothermia ORPHA:99826
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypothermia ORPHA:293987
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothermia ORPHA:438213
Sarcoidosis
Hypothermia ORPHA:797
Hereditary Sensory And Autonomic Neuropathy Type 4
Hypothermia ORPHA:642
Long Qt Syndrome 2
OMIM:613688

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 Alg10b

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 Alg10b.

No publications found that use IMPC mice or data for Alg10b.

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MGI Allele Allele Type Produced
Alg10btm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Alg10btm2(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Alg10btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Alg10btm298616(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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