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Gene: Coq8a MGI:1914676

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
coenzyme Q8A
Synonyms:
4632432J16Rik,  Cabc1,  Adck3

Order Alleles

IMPC Data Collections

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

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.

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 Coq8a 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 Coq8a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Epilepsia partialis continua, Exercise intolerance, Ataxia, Tremor, Abnormal ... OMIM:612016
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Exercise intolerance, Tremor, Abnormal pyramidal sign, Seizure, Progressive c... ORPHA:139485

The table below shows human diseases predicted to be associated to Coq8a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Dominant Spastic Paraplegia Type 4
Lower limb spasticity, Ataxia, Babinski sign, Ankle clonus, Seizure, Distal amyotrophy, Cognitive... ORPHA:100985
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... ORPHA:101010
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Generalized myoclonic seizure, Ataxia, EEG with generalized polyspikes, Seizu... OMIM:614706
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... OMIM:619742
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, EEG with generalized epilepti... OMIM:616187
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Gast... ORPHA:276435
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond... OMIM:620068
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Sei... OMIM:600143
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Atrophy... OMIM:616230
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Confusion, Ataxia, ... OMIM:615362
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Axonal degeneration, Hand tremor, Distal sensory impairment, Degeneration of ante... OMIM:604484
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Aplasia/Hypoplasia of the cerebellum, Tremor, Abnormal pyramidal sign, Clumsiness, Seizur... ORPHA:79262
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Increased neuronal autofluorescent lipopigm... OMIM:162350
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Impaired vibratory sensation, Decreased motor nerve conduction velocity, Atax... OMIM:607250
Hereditary Continuous Muscle Fiber Activity
Ataxia, Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Slur... ORPHA:972
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... ORPHA:94124
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Myoclon... OMIM:615924
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Elevated circulating creatine kinase concentration, Tremo... OMIM:614018
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Seizure, Myoclonus, Giant som... OMIM:618876
Inclusion Body Myositis
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... ORPHA:611
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... OMIM:618655
Autosomal Dominant Spastic Paraplegia Type 37
Fatigue, Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration... ORPHA:171612
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Elevated circulating cr... OMIM:619733
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Generalized myoclonic seizure, Ataxia, Cerebral atrophy, EEG abnormality, Neu... OMIM:610951
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Dementia,... OMIM:125370
Myopathy, Centronuclear, 4
Exercise intolerance, Centrally nucleated skeletal muscle fibers, Seizure, Abnormal circulating c... OMIM:614807
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Increased serum pyruvate, Ataxia, Ragged-red muscle fibers, Myopathy, Seizure, Myoclonus, General... OMIM:545000
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor ... OMIM:254800
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Hypertriglyceridemia, Ataxia, Tendon xanthomatosis, Impaired proprioception, ... OMIM:277460
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria... OMIM:618387
Cln5 Disease
Generalized-onset seizure, Tremor, Dysmetria, EEG with focal spikes, Abnormal central motor funct... ORPHA:228360
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Elevated circulating creatine kinase concentration, Generalized amyotrophy, Loss of am... OMIM:167320
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l... OMIM:204500
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Short attention span, Lower limb spasticity, Bilateral tonic-clonic seizure w... OMIM:619028
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia, Generalized clonic seizure... OMIM:607208
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Fatigue, Ataxia, Tremor, Inability to walk, Abnorma... OMIM:614831
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevate... OMIM:254110
Infantile Neuronal Ceroid Lipofuscinosis
Generalized-onset seizure, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Dysmet... ORPHA:79263
Developmental And Epileptic Encephalopathy 56
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, Generalized non-m... OMIM:617665
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Fatigue, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dy... OMIM:253601
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Spinocerebellar Ataxia 17
Diffuse cerebral atrophy, Urinary incontinence, Chorea, Dysmetria, Gait ataxia, Intention tremor,... OMIM:607136
Basal Ganglia Calcification, Idiopathic, 1
Urinary incontinence, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal circulating calcium concen... OMIM:213600
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral atrophy, ... OMIM:618088
Progressive Myoclonic Epilepsy Type 3
Cerebellar atrophy, Progressive truncal ataxia, Bilateral tonic-clonic seizure, Focal EEG dischar... ORPHA:263516
Atypical Juvenile Parkinsonism
Fatigue, Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal p... ORPHA:391411
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, D... OMIM:614487
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... ORPHA:36387
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Broad-based gait, Ataxia, Urinary incontinence, Parkinsonism, Elevated cir... ORPHA:306511
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Elevated circulating cr... OMIM:616924
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Ataxia, EEG with abnormally slow frequencies, Inability to walk, Unsteady gai... ORPHA:1947
Spinal Muscular Atrophy, Type Iv
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr... OMIM:271150
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Clonus, Elevated circulating creatine kinase concentration, Ragged-red m... OMIM:616479
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Hypercholesterole... OMIM:208920
New-Onset Refractory Status Epilepticus
Cerebellar edema, Myoclonic seizure, EEG with temporal epileptiform discharges, EEG with frontal ... ORPHA:363558
Cholesterol-Ester Transfer Protein Deficiency
Tendon xanthomatosis, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar vermis hypoplasia, Urinary incontinence, Abnormal pyramidal sign, Dysmetria, Gait atax... ORPHA:98
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Waddling gait, Facial palsy, Elevated circulating creatine kinase concentration, Decreased compou... OMIM:603511
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ataxia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ragged-red muscle fib... OMIM:618416
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... OMIM:615424
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Cerebral atrophy, Myoclonic seizure,... OMIM:226750
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... OMIM:618138
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Lower limb muscle weakness, Ataxia, Oculomoto... ORPHA:313772
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Progressive psych... ORPHA:363400
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Epilepsia partialis continua, Exercise intolerance, Ataxia, Tremor, Abnormal ... OMIM:612016
Huntington Disease-Like 3
Caudate atrophy, Ataxia, Urinary incontinence, Bowel incontinence, Chorea, Flexion contracture, U... OMIM:604802
Griscelli Syndrome Type 1
Seizure, Hyperlipidemia, Hypertonia, Ataxia ORPHA:79476
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... ORPHA:206549
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Urinary incontinence, Progressive neurologic deterioration, Fatty replacement of skele... ORPHA:329478
Spinocerebellar Ataxia 48
Cerebellar atrophy, Bilateral tonic-clonic seizure, Urinary incontinence, Ataxia, Parkinsonism, T... OMIM:618093
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Elevated circulating creatine kinase concentration, Centrally nuclea... OMIM:618129
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Urinary incontinence, Decreased nerve conduction velocity, Ba... OMIM:603516
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... OMIM:607876
Alexander Disease
Fatigue, Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Abnormal dentate nucleus morpholo... OMIM:203450
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Fatigue, Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia... ORPHA:314632
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... OMIM:605021
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Urinary incontinence, Tremor, Oculomotor apraxia, Abnormal pyramidal ... OMIM:617145
Spinocerebellar Ataxia 5
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... OMIM:600224
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Fatigue, Exercise intolerance, Increased serum pyruvate, Ataxia, Ragged-red muscle fibers, Slurre... ORPHA:1349
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... ORPHA:600
Neutral Lipid Storage Disease With Myopathy
Exercise intolerance, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, I... OMIM:610717
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Seizure, Hyperlipidemia, Hyperuricemia, Cognitive impairment ORPHA:364
Spinocerebellar Ataxia 2
Urinary incontinence, Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Distal amyot... OMIM:183090
Mitochondrial Myopathy With Lactic Acidosis
Fatigue, Increased serum pyruvate, Dysmetria, Seizure, Tip-toe gait, Focal impaired awareness sei... OMIM:251950
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fatigue, Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Proximal amyo... ORPHA:209335
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Myop... OMIM:615980
Kufor-Rakeb Syndrome
Fatigue, Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sig... OMIM:606693
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Elevated circulating creat... OMIM:606070
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A... ORPHA:98759
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy, Ataxia, Bowel incontinence, Loss of Purkinje cells in the cerebellar ver... ORPHA:276198
Carnitine Palmitoyl Transferase 1A Deficiency
Fatigue, Skeletal muscle atrophy, Sudden cardiac death, Hemiplegia/hemiparesis, Seizure, Transien... ORPHA:156
Glycogen Storage Disease Iii
Myopathy, Distal amyotrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia OMIM:232400
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Parkinsonism, Seizure, Dementia, Hypertonia, Semantic dementia, Myoclonus, Apr... ORPHA:1020
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-cloni... ORPHA:352582
Autosomal Dominant Optic Atrophy, Classic Form
Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Fatigue, Ataxia, Corpus callosum a... ORPHA:98673
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... ORPHA:98855
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Urinary incontinence, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, U... ORPHA:466768
Methanol Poisoning
Confusion, Abdominal pain, Hyperlipidemia, Abnormal cerebellar cortex morphology, Seizure ORPHA:31825
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Distal amyotrophy, Gait di... OMIM:612020
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Ataxia, Tendon xanthomatosis, Babinski sign, Abnormal pyramidal sign, Cerebra... OMIM:213700
Microtriplication 11Q24.1
Speech apraxia, Hyperlipidemia, Retrocerebellar cyst, Seizure, Hyperkinetic movements ORPHA:289522
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased ce... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased ce... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased ce... ORPHA:261
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Fatigue, Exercise intolerance, Parkinsonism, Ragged-red muscle fibers, Limb muscle weakness, Cere... OMIM:609286
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Fatigue, Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf mu... OMIM:613157
Myofibrillar Myopathy 11
Fatigue, Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, M... OMIM:619178
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Blepharospasm, Dyssynergia, Impaired proprioception, Dysmetria, Ga... ORPHA:101
Carnitine Palmitoyltransferase Ii Deficiency
Exercise intolerance, Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentr... ORPHA:157
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Elevated circulating alpha-fetoprotein ... OMIM:616267
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hypercholest... ORPHA:247585
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Abdominal colic, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Creatine Phosphokinase, Elevated Serum
Fatigue, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, My... OMIM:123320
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... OMIM:615422
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Fatigue, Diffuse cerebral atrophy, Ataxia, Elevated circulating creatine kina... OMIM:607426
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypertriglyceridemia ORPHA:366
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Exercise intolerance, Tremor, Abnormal pyramidal sign, Seizure, Progressive c... ORPHA:139485
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Fatigue, Ataxia, Dysesthesia, Unsteady gait, Babinski sign, Limb ataxia, Gait... OMIM:619259
Brain Dopamine-Serotonin Vesicular Transport Disease
Fatigue, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Dysdiad... ORPHA:352649
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Becker Muscular Dystrophy
Exercise intolerance, Skeletal muscle atrophy, Fatigue, Elevated circulating creatine kinase conc... ORPHA:98895
Glycosylphosphatidylinositol Biosynthesis Defect 17
Seizure, Hypertriglyceridemia OMIM:618010
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Lafora Disease
Ataxia, Confusion, Focal sensory seizure with visual features, Hypsarrhythmia, Seizure, Gait dist... ORPHA:501
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Urinary incontinence, Spastic tetraplegia, Seizure, Progressive cerebella... OMIM:616640
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Tendon xanthomatosis, Hypertriglyceridemia, Decreased LDL cholesterol conce... OMIM:603813
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:607616
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Parkinson Disease 20, Early-Onset
Fatigue, Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gai... OMIM:615530
Griscelli Syndrome Type 2
Seizure, Hyperlipidemia, Hypertonia ORPHA:79477
Adrenomyeloneuropathy
Back pain, Urinary incontinence, Axonal degeneration, Fatigue, Abnormal circulating fatty-acid co... ORPHA:139399
Xp21 Deletion Syndrome
Decreased muscle mass, Hypertriglyceridemia, Confusion, Elevated circulating creatine kinase conc... ORPHA:261476
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia ORPHA:329249
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia, Sudden cardiac death OMIM:610947
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Postexertional symptom exacerbation, Hyperlipidemia ORPHA:369
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Cholestasis-Lymphedema Syndrome
Fatigue, Hyperlipidemia, Bone pain, Abdominal pain ORPHA:1414
Carnitine Palmitoyltransferase I Deficiency
Seizure, Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammon... OMIM:255120
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Hyperlipidemia, Seizure, Aplasia/Hypoplasia of the cerebellar... ORPHA:254346
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Hemiparesis, Seizure, Cognitive im... OMIM:235400
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Seizure, Hyperlipidemia ORPHA:2089
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Kufor-Rakeb Syndrome
Urinary incontinence, Abnormal pyramidal sign, Hypertonia, Fatigue, Eyelid apraxia, Confusion, Pa... ORPHA:306674
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:228308
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Primary Triglyceride Deposit Cardiomyovasculopathy
Elevated circulating creatine kinase concentration, Hyperlipidemia, Increased muscle lipid conten... ORPHA:565612
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Decreased LDL cholesterol ... OMIM:615558
Hemophagocytic Lymphohistiocytosis, Familial, 4
Seizure, Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:603552
Congenital Analbuminemia
Fatigue, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypopro... ORPHA:86816
Glycogen Storage Disease Ixa1
Fatigue, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Proxi... ORPHA:189427
Smith-Magenis Syndrome
Hypertriglyceridemia, Impaired pain sensation, EEG abnormality, Seizure, Hypercholesterolemia OMIM:182290
Reni Syndrome
Hypertriglyceridemia, Ataxia, Seizure, Hypoalbuminemia, Mental deterioration OMIM:617575
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Ataxia, Central nervous system degeneration, Myopathy, Shoulder girdle musc... ORPHA:98907
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Abnormal cerebellum morpho... ORPHA:77293
Schimke Immuno-Osseous Dysplasia
Focal hemiclonic seizure, Hyperlipidemia, Hemiparesis, Seizure, Status epilepticus, Hemiplegia ORPHA:1830
Chylomicron Retention Disease
Hypertriglyceridemia, Impaired proprioception, Steatorrhea, Myopathy, Hypocholesterolemia, EMG: m... ORPHA:71
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized lim... ORPHA:98908
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy, Hypertriglyceridemia OMIM:613877
Plin1-Related Familial Partial Lipodystrophy
Calf muscle hypertrophy, Hypertriglyceridemia ORPHA:280356
Chédiak-Higashi Syndrome
Cerebellar atrophy, Hyponatremia, Somatic sensory dysfunction, Hypertriglyceridemia, Ataxia, Park... ORPHA:167
Smith-Magenis Syndrome
Hypertriglyceridemia, Impaired pain sensation, EEG abnormality, Seizure, Gait disturbance, Attent... ORPHA:819
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Hyperlipidemia, Episodic abdominal pain, Dementia, Increased circulating ch... ORPHA:444490
Fabry Disease
Fatigue, Abdominal pain, Hyperlipidemia, Seizure, Arthralgia, Myalgia, Cognitive impairment, Left... ORPHA:324
Rajab Interstitial Lung Disease With Brain Calcifications 2
Exercise intolerance, Decreased muscle mass, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Familial Multiple Lipomatosis
Seizure, Hyperlipidemia ORPHA:199276
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Hypertriglyceridemia, Elevated circulatin... ORPHA:79240
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Tetrapl... OMIM:603553
Hyperlipoproteinemia, Type I
Hyperlipidemia, Episodic abdominal pain, Lactescent serum, Increased circulating chylomicron conc... OMIM:238600
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, S... ORPHA:79083
Lipe-Related Familial Partial Lipodystrophy
Proximal muscle weakness in upper limbs, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:435660
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myo... ORPHA:2348
Lipodystrophy, Congenital Generalized, Type 4
Exercise intolerance, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, C... OMIM:613327
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Flexion contracture OMIM:608612
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Confusion, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline OMIM:603471
Glycogen Storage Disease Ia
Xanthelasma, Decreased muscle mass, Hyperuricemia, Hyperlipidemia OMIM:232200
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Flexion contracture, Elbow flexion contracture, Camptodactyly, Hyperc... OMIM:248370
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Flexion contracture, Arthralgia ORPHA:90153
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Aapoaiv Amyloidosis
Back pain, Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Fatigue, Hyperlipidemia, Hypoalbuminemia, Abdominal pain ORPHA:567546
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Hypertriglyceridemia, Elevated circulatin... ORPHA:264580
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Hypoglycemic seizures, Xanthelasma, Hyperuricemia, Cognitiv... ORPHA:79259
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Skeletal muscle hypertrophy, Macroglossia, Hypercholesterolemia, Increased ... ORPHA:528
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Hypertriglyceridemia, Bilateral tonic-clonic seizure, Hypercalcemia, Generali... ORPHA:369837
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Cidec-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hypertriglyceridemia ORPHA:435651
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abdominal pain, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating... ORPHA:567548
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Abd... ORPHA:567983
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Seizure, Hyperprotein... ORPHA:158048
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232220
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:618620
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Impaired pain sensation, Hyperlipidemia, Hyperkalemia, Seizure ORPHA:293987
Familial Hemophagocytic Lymphohistiocytosis
Seizure, Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration ORPHA:540
Woodhouse-Sakati Syndrome
Mental deterioration, Hyperlipidemia, Choreoathetosis ORPHA:3464
Mandibuloacral Dysplasia
Contractures of the large joints, Hypertriglyceridemia, Hypercholesterolemia, Increased circulati... ORPHA:2457
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Proximal upper limb muscle hypertr... ORPHA:280365
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Tendon xanthomatosis, Increased LD... ORPHA:412
Tangier Disease
Hypertriglyceridemia, Impaired temperature sensation, Abdominal pain, Facial diplegia, Hypocholes... ORPHA:31150
Woodhouse-Sakati Syndrome
Choreoathetosis, Hyperlipidemia, Abnormality of extrapyramidal motor function OMIM:241080
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hyperglycerolemia, Myopathy, Seizure, Muscular dystrophy OMIM:307030
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Skeletal muscle hypertrophy, Myalg... OMIM:151660
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Flexion contracture, Arthralgia, Hypertriglyceridemia OMIM:617591
Acquired Generalized Lipodystrophy
Myopathy, Calf muscle pseudohypertrophy, Abnormal circulating lipid concentration, Hypertriglycer... ORPHA:79086
Gaisböck Syndrome
Fatigue, Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia... ORPHA:90041
Aromatase Deficiency
Hyperlipidemia, Bone pain ORPHA:91
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Homozygous Familial Hypercholesterolemia
Sudden cardiac death, Tendon xanthomatosis, Hyperlipidemia, Abnormal tendon morphology, Increased... ORPHA:391665
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615947
Lysosomal Acid Lipase Deficiency
Psychomotor deterioration, Hyponatremia, Hypertriglyceridemia, Abdominal pain, Hyperkalemia, Xant... ORPHA:275761
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Clonus, Babinski sign, Dysmetria, Distal sensory impairment, Gait ataxia, D... OMIM:606721
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Camptodac... OMIM:256040
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Ataxia, Camptodactyly of finger, Confusion, Action tremor, Tremor, Skeletal... ORPHA:3455
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Alström Syndrome
Somatic sensory dysfunction, Incoordination, Ataxia, Urinary incontinence, Hypertriglyceridemia, ... ORPHA:64

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 Coq8a

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 Coq8a.

No publications found that use IMPC mice or data for Coq8a.

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MGI Allele Allele Type Produced
Coq8atm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Coq8atm96731(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Coq8atm96731(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Coq8aem1Ics Point Mutation Mice
Coq8atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Coq8atm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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