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Gene: Cox6a1 MGI:103099

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Gene Summary

Name:
cytochrome c oxidase subunit 6A1
Synonyms:
VIaL,  subunit VIaL (liver-type)

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.

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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.

Legacy Phenotype Associated Images
Cox6a1tm1(KOMP)Wtsi
body, HET, Female, WTSI
Cox6a1tm1(KOMP)Wtsi
head, HET, Female, WTSI
Cox6a1tm1(KOMP)Wtsi
body, HET, Female, WTSI
Cox6a1tm1(KOMP)Wtsi
head, HET, Female, WTSI
Cox6a1tm1(KOMP)Wtsi
head, HET, Female, WTSI

View all 108 images

Cox6a1tm1(KOMP)Wtsi
eye, corneal opacity, fused cornea and lens, HET, Female, WTSI
Cox6a1tm1(KOMP)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Cox6a1 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 Cox6a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Distal sensory impairment, Foot dorsiflexor weakness OMIM:616039

The table below shows human diseases predicted to be associated to Cox6a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Ataxia, Decreased nerve conduction velocity, Hypoesthesia, Segmental peripheral demyelination/rem... OMIM:601098
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, First dorsal interossei muscle atrophy, Thenar muscle weakness, Dis... ORPHA:139536
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Hand muscle weakness, Decreased sensory nerve conduction velocity, Decreased motor nerve conducti... OMIM:608323
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Weakness of facial musculature, Foot dorsiflexor weakness, Wrist flexion contracture, Weakness of... OMIM:619519
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrophy OMIM:605589
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... OMIM:608673
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal sensory impairment, Foot dorsiflexor weakness, ... OMIM:302801
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Flexion contracture, Impaired distal tactile sensation, Proximal muscle weakness in lower limbs, ... OMIM:607706
Chronic Inflammatory Demyelinating Polyneuropathy
Spontaneous pain sensation, Hand muscle weakness, Motor conduction block, Sensory ataxia, Decreas... ORPHA:2932
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Impaired vibratory sensation, Proximal muscle weakness in lower limbs, Decreased motor nerve cond... OMIM:618912
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Amyotrophy of ankle musculature, Intrinsic hand muscle atrophy, Decreased number of large periphe... ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... OMIM:118210
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Foot dorsiflexor weakness, Distal amyotr... OMIM:616040
Charcot-Marie-Tooth Disease, Type 4J
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... OMIM:611228
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Hypertrophic nerve chang... DECIPHER:29
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Foot dorsiflexor weaknes... OMIM:613287
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Decreased compound muscle action potential amplitude, Distal sensory impai... OMIM:613641
Charcot-Marie-Tooth Disease, Type 4H
Peripheral hypomyelination, Hypoesthesia, Small thenar eminence, Decreased motor nerve conduction... OMIM:609311
Amyotrophic Lateral Sclerosis 11
Somatic sensory dysfunction, Skeletal muscle atrophy, Decreased nerve conduction velocity OMIM:612577
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Di... OMIM:610100
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hand muscle weakness, Hypoesthesia, Segmental peripheral demyelination/remyelination, Decreased m... OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Foot dorsiflexor weakness, Distal amyotrophy, Elevated hepatic tran... OMIM:618400
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... ORPHA:276435
Neuronopathy, Distal Hereditary Motor, Type Vc
Distal lower limb muscle weakness, Decreased compound muscle action potential amplitude, Distal l... OMIM:619112
X-Linked Charcot-Marie-Tooth Disease Type 6
Thenar muscle atrophy, Decreased nerve conduction velocity, Impaired vibration sensation in the l... ORPHA:352675
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Impaired pain sensation, Abno... ORPHA:101075
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Distal sen... OMIM:601382
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Foot ... OMIM:605588
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle weakness, Hand muscle atrophy, Abnormality of the foot musculature, Foot dorsiflexor ... ORPHA:100998
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of large peripheral myelinated nerve fibers, Sensory ataxia, Decreased motor ner... OMIM:614895
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Charcot-Marie-Tooth Disease Type 2B1
Axonal degeneration, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Hand muscl... ORPHA:98856
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot dorsiflexor weakness,... OMIM:607678
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Sensory ataxia, Decreased sensory nerve conduction velocity, Calf mus... ORPHA:101081
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Hand muscle atrophy, Distal sensory impairment, Skeletal mus... ORPHA:99944
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:607734
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:614751
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Dist... OMIM:605253
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity, Lower limb amyotrophy, Lower limb muscle weakness, Spi... OMIM:615575
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Foot dorsiflexor weaknes... OMIM:600361
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... ORPHA:206594
Digital Extensor Muscle Aplasia-Polyneuropathy
Muscular dystrophy, Camptodactyly of finger, Aplasia/Hypoplasia involving the skeletal musculatur... ORPHA:2926
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Skeletal muscle atrophy, Decreased nerve conduction velocity OMIM:183050
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Distal sensory impairment, Foot dorsiflexor weakness, Distal... OMIM:302802
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Flexion contracture, Onio... OMIM:609260
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Sensory ataxia, Onion bulb formation, Decreased motor nerve conduction velocity,... OMIM:618184
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, ... OMIM:600882
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Hand muscle weakness, Motor conduction block, Decreased number of larg... ORPHA:99948
Roussy-Levy Hereditary Areflexic Dystasia
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:180800
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Distal sensory impairment, Dis... OMIM:608895
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Skeletal muscle hypertrophy, Peripheral axonal neuropathy, S... ORPHA:101082
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Decreased nerve conduction velocity, Abolished vibration sense, Impaired vibration sensation in t... ORPHA:435387
Spastic Paraplegia 17, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Decreased motor nerve conduction velocity, First... OMIM:270685
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Skeletal muscle atrophy, Decreased nerve conduction velocity, Impaired pain sensation ORPHA:101078
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormality of the Achilles tendon, Di... ORPHA:431329
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, F... OMIM:614436
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Abnormal motor evoked potentials, Decreased nerve conduction velocity, EMG: myopathic abnormaliti... ORPHA:99939
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Distal sensory impairment, ... OMIM:606595
Charcot-Marie-Tooth Disease Type 4G
Motor conduction block, Impaired vibratory sensation, Decreased motor nerve conduction velocity, ... ORPHA:99953
X-Linked Charcot-Marie-Tooth Disease Type 3
Hand muscle weakness, Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, Dec... ORPHA:101077
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:118220
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Distal sensory impairment, Foot dorsiflexor weakness, ... OMIM:118300
Roussy-Lévy Syndrome
Intrinsic hand muscle atrophy, Limb ataxia, Impaired vibratory sensation, Decreased motor nerve c... ORPHA:3115
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Decreased motor nerve conduction velocity ORPHA:640
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... OMIM:214400
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601455
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrophy, Decrease... OMIM:607831
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Foot dorsifl... OMIM:118200
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Skeletal muscle hypertrophy, Optic atrophy, Impaired pain sensation, Abnormal nerve condu... ORPHA:99014
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:868
Ataxia-Deafness-Intellectual Disability Syndrome
Ataxia, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:1188
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Limb ataxia, Somatic sensory dysfunction, Gait ataxia, Hypomimic face, Abnormal nerv... OMIM:619862
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Flexion contracture, Decreased motor nerve conduction velocity, Foot dorsiflexor... OMIM:607684
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Distal upper lim... ORPHA:65684
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Intrinsic hand muscle atrophy, Ataxia, Decreased motor nerve conduction velocity, Foot dorsiflexo... OMIM:616688
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity, Spinal muscular atrophy, Foot dorsiflexor weakness, Di... OMIM:605726
Hypertrophic Neuropathy Of Dejerine-Sottas
Myelin tomacula, Decreased sensory nerve conduction velocity, Sensory ataxia, Segmental periphera... OMIM:145900
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Limb muscle weakness, Decreased nerve conduction velocity, Distal sensory i... OMIM:615284
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Dysdiadochokinesis, Optic atrophy, Optic disc pallor, Choreo... ORPHA:98890
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination OMIM:162600
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Lower l... ORPHA:90117
Charcot-Marie-Tooth Disease Type 1F
Flexion contracture of finger, Limb ataxia, Proximal muscle weakness in lower limbs, Weakness of ... ORPHA:101085
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decrease... OMIM:162400
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Abnormality of peripheral nerve condu... ORPHA:280234
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Motor axonal neuropathy, Abnormal peripheral action potential amplitude, EEG abnormality, Decreas... ORPHA:457205
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Lower limb amyotrophy, Distal sensory impairment, Decr... ORPHA:99950
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:604563
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Internally nucleated skeletal muscle fibers, Axonal degenera... OMIM:618138
Indifference To Pain, Congenital, Autosomal Recessive
Pain insensitivity, Abnormal autonomic nervous system physiology, Painless fractures due to injur... OMIM:243000
Wild Type Abeta2M Amyloidosis
Abnormality of the thenar eminence, Decreased nerve conduction velocity, Macroglossia, Abnormal t... ORPHA:85446
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Decrease... OMIM:603511
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Impaired vibration sensation in the lower limbs, Decreased motor nerve conduction velocity, Dista... OMIM:613640
Cataract-Ataxia-Deafness Syndrome
Ataxia, Decreased nerve conduction velocity ORPHA:1368
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination OMIM:608236
Leukodystrophy, Hypomyelinating, 18
Abnormal motor nerve conduction velocity, Dysmetria, Decreased nerve conduction velocity, Flexion... OMIM:618404
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Dysmetria, Dysdiadochokinesis, Chorea, Optic atrophy, Abnormality ... ORPHA:98755
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Sensory ... ORPHA:139578
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Skeletal muscle atrophy, Decreased nerve conduction velocity OMIM:614932
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Decreased nerve conduction velocity, Dysmetria, Distal sensory impairment, Distal amyotro... OMIM:612674
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction, Lower limb muscle weakness ORPHA:101001
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:605285
Motor Neuropathy, Peripheral, With Dysautonomia
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Orthostatic hy... OMIM:252320
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Motor axonal neuropathy, Ataxia, Dysmetria, Camptodactyly of finger, Acute rhabdomyolysis, Parest... ORPHA:48431
Ataxia-Pancytopenia Syndrome
Ataxia, Decreased nerve conduction velocity, Dysmetria, Impaired vibration sensation in the lower... OMIM:159550
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Hand muscle weakness, Dysmetria, Axonal degeneration, Onion bulb formation, Decreased motor nerve... OMIM:302800
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventration, Increased variabi... OMIM:614399
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Decreased sensory nerve con... OMIM:270550
X-Linked Charcot-Marie-Tooth Disease Type 2
Optic neuropathy, Hand muscle weakness, Peroneal muscle weakness, Intrinsic hand muscle atrophy, ... ORPHA:101076
Posterior Column Ataxia With Retinitis Pigmentosa
Ataxia, Flexion contracture of finger, Sensory ataxia, Joint contracture of the hand, Decreased s... OMIM:609033
Spinocerebellar Ataxia 1
Progressive cerebellar ataxia, Decreased sensory nerve conduction velocity, Limb ataxia, Dysmetri... OMIM:164400
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle weakness, Decreased nerve conduction velocity, Trophic limb changes, Orthostatic ... OMIM:118301
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Decreased nerve conduction velocity, Peripheral demyelination OMIM:249900
Amyotrophic Lateral Sclerosis 21
Hand muscle weakness, Decreased nerve conduction velocity, Rimmed vacuoles, Increased variability... OMIM:606070
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Intrinsic hand muscle atrophy, Decreased nerve conduction velocity, EMG: myopath... ORPHA:329478
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
EMG: myopathic abnormalities, Decreased motor nerve conduction velocity, Congenital muscular dyst... OMIM:601170
Parkinsonism With Polyneuropathy
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Decr... OMIM:619279
Multifocal Motor Neuropathy
Motor conduction block, Limb muscle weakness, Weakness of long finger extensor muscles ORPHA:641
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, EMG: myopathic abnormalities, Increased variability in muscl... ORPHA:397744
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Flexion contracture of finger, Axonal degeneration, Impaired vibration sensation in the l... ORPHA:88628
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Decreased nerve conduction velocity, Axonal degeneration, Diaphragmatic eventration, Camptodactyl... OMIM:604320
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Positive Romberg sign, Distal sensory impairment, Dist... OMIM:601152
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia ORPHA:66631
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Abnormality of the autonomic nervous system, Trophic changes related to pain,... ORPHA:36386
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairmen... OMIM:256840
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Ataxia, Decreased nerve conduction velocity, Dysmetria OMIM:618356
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the extraocular muscles, Decreased ... ORPHA:600
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Decreased nerve conduction velocity, Type 2 muscle fiber atrophy, Type 1 muscle ... ORPHA:319514
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Decreased motor nerve conduction velocity, Decreased sensory nerve c... OMIM:603472
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:1933
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve conduction velocit... OMIM:604168
Charcot-Marie-Tooth Disease Type 1E
Peroneal muscle weakness, Hand muscle weakness, Acroparesthesia, Decreased nerve conduction veloc... ORPHA:90658
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Flexion contracture of finger, Proximal muscle weakness in lower... ORPHA:466768
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Hepatomegaly, Muscular dystrophy, Truncal ataxia, Chorea, Elevated hepatic ... ORPHA:369840
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Ataxia, Acroparesthesia, Decreased nerve conducti... ORPHA:206443
Friedreich Ataxia
Ataxia, Decreased sensory nerve conduction velocity, Limb ataxia, Impaired vibratory sensation, O... OMIM:229300
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased number of large peripheral myelinated nerve fibers, Abnormality of the extraocular musc... ORPHA:298
Autosomal Recessive Spastic Paraplegia Type 55
Optic neuropathy, Decreased sensory nerve conduction velocity, Onion bulb formation, Foot dorsifl... ORPHA:320375
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Flexion contracture OMIM:619851
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Decreased nerve conduction velocity, Impaired vibratory s... OMIM:238970
Spinocerebellar Ataxia 10
Progressive cerebellar ataxia, Decreased nerve conduction velocity, Dysmetria, Limb ataxia, Dysdi... OMIM:603516
Krabbe Disease
EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Reduced galactocerebrosidase... OMIM:245200
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial diplegia, Axonal degeneration/regeneration, Decreased sensory nerve conduction velocity, F... OMIM:218000
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Decreased nerve conduction velocity ORPHA:2928
Metachromatic Leukodystrophy
Ataxia, Gallbladder dysfunction, Decreased nerve conduction velocity, Chorea, Cholecystitis, Opti... OMIM:250100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated hepatic transaminase, L... OMIM:612937
Amyotrophic Lateral Sclerosis 4, Juvenile
Axonal degeneration, Degeneration of anterior horn cells, Peripheral axonal degeneration, Distal ... OMIM:602433
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Elev... ORPHA:263494
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Distal sensory impairment, Foot dorsiflexor weakness OMIM:616039
Leukodystrophy, Hypomyelinating, 2
Ataxia, Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Optic atrophy, Chor... OMIM:608804
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Painless fractures due to injury, Decreas... OMIM:201300
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Ataxia, Limb ataxia, Abnormal autonomic nervous system physiology, Positive Romberg sign, Decreas... OMIM:614575
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Elevated hepatic transaminase, Ataxia, Peripheral axonal neuropathy OMIM:619688
Infantile Neuroaxonal Dystrophy
Ataxia, Flexion contracture, Abnormal autonomic nervous system physiology, Peripheral axonal neur... ORPHA:35069
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Decreased nerve conduction ve... OMIM:615368
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Chronic axonal neuropathy, Limb ataxia, Decreased motor nerve conduction velocity, Peripheral axo... OMIM:606002
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Sialidosis Type 1
Ataxia, EEG abnormality, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:812
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Foot dorsiflexor weakness, Distal amyotrophy, Shoulder girdle muscle atrophy... OMIM:606071
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal nerve conduction velocity ORPHA:93476
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Intrinsic hand muscle atrophy, Ataxia, Impaired vibratory sensation, Decreased pyruvate carboxyla... OMIM:302900
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Gait ataxia, Sensory ataxia, Decreased sensory nerve c... OMIM:616192
Friedreich Ataxia
Limb ataxia, Dysmetria, Decreased motor nerve conduction velocity, Hand muscle atrophy, Sensory a... ORPHA:95
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Decreased motor nerve conduction velocity, Skeletal muscle atrophy OMIM:615419
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Increased variability in muscle fiber diameter, Decrea... OMIM:619026
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Decreased motor nerve conduction velocity, Lower limb amyotrophy, Lower lim... OMIM:610532
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Ataxia, EEG abnormality, Hepatomegaly, Decreased sensory nerve conduction velocity, Joint contrac... ORPHA:456312
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Torticollis, Ataxia, De... OMIM:609136
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Abnormal peripheral myelination, Skeletal muscle atro... ORPHA:168563
Neuromuscular Oculoauditory Syndrome
Muscle fiber necrosis, Decreased nerve conduction velocity, Peripheral hypomyelination, EMG: myop... OMIM:618733
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure OMIM:143500
Lethal Ataxia With Deafness And Optic Atrophy
Ataxia, EEG with focal epileptiform discharges, Decreased motor nerve conduction velocity, Abnorm... ORPHA:1187
Yuan-Harel-Lupski Syndrome
Gait ataxia, Decreased nerve conduction velocity, Distal sensory impairment OMIM:616652
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Ataxia, Decreased nerve conduction velocity OMIM:256600
Peroxisome Biogenesis Disorder 4B
Decreased liver function, Ataxia, Hepatomegaly, Decreased nerve conduction velocity, Optic atrophy OMIM:614863
Combined Oxidative Phosphorylation Defect Type 39
EEG abnormality, Decreased nerve conduction velocity, Congenital foot contractures, Abnormal enzy... ORPHA:565624
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Cholecystitis, Optic atrophy, Gait ataxia, Progressive gait ... ORPHA:309256
Charcot-Marie-Tooth Disease Type 4C
Sensory ataxia, Weakness of facial musculature, Decreased motor nerve conduction velocity, Positi... ORPHA:99949
Infantile Krabbe Disease
Decreased nerve conduction velocity, Abnormal enzyme/coenzyme activity, Optic atrophy, Hyperesthe... ORPHA:206436
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity, Distal sensory impairment, Foot dorsiflexor weakness, Distal... ORPHA:477817
Poliomyelitis
Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Lower limb muscle weakness, A... ORPHA:2912
Charcot-Marie-Tooth Disease Type 4B2
Hand muscle weakness, Proximal muscle weakness in lower limbs, Weakness of facial musculature, My... ORPHA:99956
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Decreased nerve conduction velocity, Progressive gait ataxia, Cholecystitis ORPHA:309263
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Orthostatic hypotension due to autonomic dysfunction, Chorea... ORPHA:309271
Scheie Syndrome
Hepatomegaly, Abnormal nerve conduction velocity ORPHA:93474
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Jaundice, Intrahepatic cholestasis, Abnormal liver function tests ... OMIM:147480
Bickerstaff Brainstem Encephalitis
Impaired proprioception, Ataxia, EEG abnormality, Sensory ataxia, Weakness of facial musculature,... ORPHA:79138
Wilson Disease
Hepatomegaly, Hypoesthesia, Decreased nerve conduction velocity, Hepatic failure, Acute hepatic f... OMIM:277900
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Ataxia, Giant cell hepatitis, Cholestatic liver disease, Abnormal enzyme/coenzyme... ORPHA:79095
Chediak-Higashi Syndrome
Ataxia, Hepatomegaly, Decreased nerve conduction velocity, Foot dorsiflexor weakness, Jaundice OMIM:214500
Cog8-Cdg
Chronic axonal neuropathy, Ataxia, Skeletal muscle atrophy, Elevated hepatic transaminase ORPHA:95428
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis... OMIM:613812
Chylomicron Retention Disease
EMG: myopathic abnormalities, Elevated hepatic transaminase, Increased hepatocellular lipid dropl... ORPHA:71
Cerebrotendinous Xanthomatosis
Cholelithiasis, Optic neuropathy, Ataxia, Abnormal motor evoked potentials, Decreased nerve condu... ORPHA:909
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Hepatomegaly, Optic atrophy, Elevated hepatic transa... ORPHA:90321
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Ataxia, Decreased nerve conduction velocity OMIM:610651
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor, Hypsarrhy... ORPHA:485421
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ... OMIM:214950
Gallbladder Disease 1
Cholelithiasis, Elevated circulating alkaline phosphatase concentration, Cholestasis, Cholecystit... OMIM:600803
Warburg Micro Syndrome 4
Optic atrophy, Decreased motor nerve conduction velocity, Decreased muscle mass, Flexion contracture OMIM:615663
Metachromatic Leukodystrophy
Abnormal gallbladder morphology, Ataxia, Hemobilia, Decreased nerve conduction velocity, Abnormal... ORPHA:512
Friedreich Ataxia 2
Abnormality of peripheral nerve conduction, Ataxia, Decreased pyruvate carboxylase activity, Impa... OMIM:601992
D-Bifunctional Protein Deficiency
Hepatomegaly, Decreased nerve conduction velocity, Cholestasis, Elevated hepatic transaminase, Bi... OMIM:261515
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction, Hepatomegaly ORPHA:585
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Elevated ... OMIM:235555
Chédiak-Higashi Syndrome
Decreased liver function, Ataxia, Decreased nerve conduction velocity, Hepatosplenomegaly, Increa... ORPHA:167
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Bile duct proli... OMIM:602347
Hurler Syndrome
Camptodactyly of finger, Hepatomegaly, Macroglossia, Abnormal nerve conduction velocity ORPHA:93473
Congenital Disorder Of Deglycosylation 1
Intrinsic hand muscle atrophy, Pain insensitivity, Hepatomegaly, Decreased sensory nerve conducti... OMIM:615273
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Hepatocellular carcinoma, Sclerosing cholangitis, Elevated... ORPHA:69663
Japanese Encephalitis
EEG abnormality, Decreased motor nerve conduction velocity, EEG with burst suppression, Choreoath... ORPHA:79139
Cockayne Syndrome
Ataxia, Hepatomegaly, Decreased nerve conduction velocity, Limb hypertonia, Peripheral axonal neu... ORPHA:191
Cockayne Syndrome A
Hip contracture, Abnormal peripheral myelination, Ataxia, Hepatomegaly, Decreased nerve conductio... OMIM:216400
Neutral Lipid Storage Myopathy
Hand muscle weakness, Hepatomegaly, Rimmed vacuoles, Pelvic girdle muscle weakness, Foot dorsifle... ORPHA:98908
Friedreich Ataxia And Congenital Glaucoma
Decreased amplitude of sensory action potentials, Ataxia, Decreased pyruvate carboxylase activity... OMIM:229310
Cockayne Syndrome Type 3
Hepatomegaly, Flexion contracture, Peripheral axonal neuropathy, Optic disc pallor, Elevated hepa... ORPHA:90324
Cockayne Syndrome B
Abnormal peripheral myelination, Ataxia, Hepatomegaly, Decreased nerve conduction velocity, Optic... OMIM:133540
Choreoacanthocytosis
Muscle fiber atrophy, Hepatomegaly, Abnormal autonomic nervous system physiology, Impaired vibrat... ORPHA:2388
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic fa... ORPHA:567983
Hereditary Sensory And Autonomic Neuropathy Type 4
Pain insensitivity, Trophic limb changes, Orthostatic hypotension due to autonomic dysfunction, A... ORPHA:642
Mucopolysaccharidosis Type 2
Flexion contracture of digit, Hepatomegaly, Decreased nerve conduction velocity, Macroglossia, Pa... ORPHA:580
Hypermobile Ehlers-Danlos Syndrome
Paresthesia, Aplasia/Hypoplasia of the abdominal wall musculature, Decreased nerve conduction vel... ORPHA:285

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 Cox6a1

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 Cox6a1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cox6a1tm1(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Cox6a1tm1(KOMP)Wtsi PMC6459510
A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease. American journal of human genetics (August 2014) Cox6a1tm1(KOMP)Wtsi PMC4157141

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MGI Allele Allele Type Produced
Cox6a1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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