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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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Viewing: all phenotypes

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
Foot dorsiflexor weakness, Distal sensory impairment OMIM:616039

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Th... ORPHA:139536
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment OMIM:605589
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Impaired dist... OMIM:619519
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal sensory impairment, Upper limb muscle weakness,... OMIM:302801
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Hand muscle weakness, Distal sensory impairment, Upper... OMIM:608323
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Impaired dist... OMIM:616687
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired pain sensation,... OMIM:618912
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Hand muscle weakness, Decreased nerve conduction velocity, Motor con... ORPHA:2932
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma, Foot dorsiflexor wea... OMIM:613641
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity, Peroneal muscle weakness, Peroneal muscle atrophy, The... OMIM:614751
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Somatic sensory dysfunction OMIM:612577
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal lower limb amyotrophy,... OMIM:613287
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Distal lower ... OMIM:619112
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Distal sensory impairment OMIM:620111
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Distal sensory impairment, Decreased amplitude of sensory action potentials OMIM:608673
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Distal upper limb amyotrophy, Abno... ORPHA:101075
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Impaired distal vibration sens... ORPHA:276435
X-Linked Charcot-Marie-Tooth Disease Type 6
Distal lower limb amyotrophy, Thenar muscle atrophy, Decreased nerve conduction velocity, Impaire... ORPHA:352675
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... DECIPHER:29
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Proximal muscle weakness... OMIM:620068
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Claw hand deformity, Spinal muscular atrophy, Decrease... OMIM:605726
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Abnormal motor nerve conduction velocity, Hand muscle weakness, Abnormality ... ORPHA:100998
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Decreased nerve conduction velocity, Dec... ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Decreased dis... OMIM:607706
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Hand muscle weakness, Hypoesthesia, Hand paresthesia, ... OMIM:162500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Foot do... OMIM:607678
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Decreased distal sensory nerve action potential, Distal amyotrophy... OMIM:618400
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Upp... OMIM:606595
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, W... OMIM:615575
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Distal amyotrophy, Impaired distal vibration sensation... OMIM:610100
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Sensory ataxia, Distal sensor... ORPHA:101081
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Hand muscle atrophy, Decreased distal sensory nerve ac... OMIM:607684
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Ankle flexion contracture, Decreased nerve conduction ... OMIM:611228
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia
Distal lower limb amyotrophy, Elevated hepatic transaminase, Distal sensory impairment, Increased... OMIM:310490
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ab... ORPHA:2926
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal amyotrophy, Distal... OMIM:615376
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Small hypothenar eminenc... OMIM:609311
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia OMIM:183050
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Distal sensory impairment, Upper limb muscle weakness, Dista... OMIM:302802
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia, Impaired pain sensation ORPHA:101078
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Autosomal Recessive Spastic Paraplegia Type 57
Distal lower limb amyotrophy, Optic atrophy, Abnormality of the Achilles tendon, Abnormality of p... ORPHA:431329
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Skeletal muscle atrophy, Hand muscle atrophy, Distal sensory... ORPHA:99944
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrophy, Limb mus... OMIM:600361
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impairment, Distal amyotr... OMIM:118210
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Impaired pain sen... ORPHA:435387
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Impaired distal proprioception, Thenar muscle atrophy,... OMIM:270685
Charcot-Marie-Tooth Disease Type 4A
Impaired distal proprioception, Decreased nerve conduction velocity, Impaired pain sensation, Han... ORPHA:99948
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Somatic sensory dysfunction, Decreased nerve conduction velocity, Upper limb muscle weakness, Dis... ORPHA:99939
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Abnorma... OMIM:605253
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Distal amyotrophy, Distal sensory impairment OMIM:608895
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... ORPHA:206594
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Somatic sensory dysfunct... ORPHA:101077
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Paresthesia ORPHA:640
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Somatic sensory dysfunct... ORPHA:3115
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Sensory ataxia, Facial dipleg... OMIM:618184
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Optic atrophy, Skeletal muscle hypertrophy, Abnormal nerve condu... ORPHA:99014
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Impaired vibratory sensation, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, P... ORPHA:101097
Spinocerebellar Ataxia, Autosomal Recessive 32
Somatic sensory dysfunction, Torticollis, Limb ataxia, Gait ataxia, Abnormal nerve conduction vel... OMIM:619862
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Somatic sensory dysfunct... OMIM:600882
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Skeletal muscle atrophy ORPHA:868
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia ORPHA:1188
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Skeletal muscle atrophy, Somatic sensory dysfunction, Skelet... ORPHA:101082
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Distal sensory impairment, Upper limb muscle weakness,... OMIM:605588
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Decreased distal sensory... ORPHA:99953
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Flexion contracture, Optic atrophy, Distal sensory imp... OMIM:609260
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Ataxia, Impaired distal ... OMIM:607250
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... ORPHA:98890
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Ataxia, Impaired distal proprioception, Impaired dista... OMIM:616688
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Fatty replacement of skeletal muscle, Decreased compound muscle action p... OMIM:618279
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Decreased nerve conduction velocity, Distal sensory impairment, Upper li... OMIM:615284
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Dis... OMIM:605285
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Hand muscle atrophy, Toe extensor amyotrophy, Pelvic g... ORPHA:98856
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Distal sensory im... OMIM:614436
Monomelic Amyotrophy
Distal upper limb amyotrophy, Abnormality of peripheral nerve conduction ORPHA:65684
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, Distal ... OMIM:118300
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Hand muscle we... ORPHA:101085
Indifference To Pain, Congenital, Autosomal Recessive
Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Painless fractures d... OMIM:243000
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Abnormality of the seventh cranial nerve, Distal sensory impairment,... ORPHA:90117
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment, Gait ataxia OMIM:180800
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Intrinsic hand muscle atrophy... OMIM:614895
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Ataxia ORPHA:1368
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Chorea, Optic atrophy, Impaired proprioception, Dysmetria, Abnormality o... ORPHA:98755
Autosomal Recessive Spastic Paraplegia Type 21
Lower limb muscle weakness, Abnormality of peripheral nerve conduction ORPHA:101001
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Flexion contracture, Abnormal motor nerve conduction velocit... OMIM:618404
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Upper limb amyotrophy, Di... ORPHA:99950
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment OMIM:607734
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment OMIM:607831
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Skeletal muscle atrophy, Choreoathetosis OMIM:614932
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n... OMIM:618138
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrophy, Dysmetri... OMIM:612674
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Impaired pain sensation, Dysesthesia, Impaired vibrati... OMIM:613640
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Decreased compound muscle action potential amplitude, Flexion contracture, Shoulder... OMIM:603511
Null Syndrome
Decreased nerve conduction velocity, Ataxia, Optic atrophy, Abnormality of peripheral nerve condu... ORPHA:280234
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Dysesthesia, Abnormal tendon morphology, Macroglossia, Pares... ORPHA:85446
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Optic atrop... ORPHA:457205
Congenital Myopathy 10A, Severe Variant
Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of finger, Increased variab... OMIM:614399
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Decreased compound muscle action potential amplitude, Flexion contracture, Generalized ... OMIM:618323
Ataxia-Pancytopenia Syndrome
Ataxia, Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Dys... OMIM:159550
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal proprioception, Decreas... OMIM:601455
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired distal proprioceptio... OMIM:162400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrophy, Limb mus... OMIM:118220
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Distal lower limb amyotrophy, Tibia... ORPHA:101076
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Acute rhabdomyolysis, Camptodactyly of finger, Dysmetria, Paresthesia, Abnormality of per... ORPHA:48431
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Distal amyotrophy, Abnormal autonomic nervous system p... ORPHA:139578
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Torticollis OMIM:613724
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrophy, Limb mus... OMIM:118200
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic disc pallor, Impaired vibratory sensation, Skele... OMIM:164400
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Sensory ataxia, D... OMIM:145900
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Hepatomegaly, Decreased nerve conduction velocity, Dysmetria, Dysdi... OMIM:238970
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:619279
Posterior Column Ataxia With Retinitis Pigmentosa
Skeletal muscle atrophy, Flexion contracture of finger, Ataxia, Impaired vibration sensation in t... OMIM:609033
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Distal amyotrophy, Foot dorsiflexor weakness, Distal s... OMIM:604563
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Decreased nerve conduction v... ORPHA:329478
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Ankle flexion contracture, Decreased nerve conduction velocity, Choreoathetosis,... ORPHA:319514
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... ORPHA:171445
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Decreased nerve conduction velocity, Distal sensor... ORPHA:600
Multifocal Motor Neuropathy
Limb muscle weakness, Weakness of long finger extensor muscles, Motor conduction block ORPHA:641
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Decreased nerve conduction velocity, Hand muscle weak... OMIM:606070
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, Pe... OMIM:270550
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Distal amyotrophy, Decreased sensory nerve conduction ... OMIM:214400
Charcot-Marie-Tooth Disease Type 1E
Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Impaired temperature... ORPHA:90658
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Cednik Syndrome
Ataxia, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia ORPHA:1933
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Fatty replacement of skeletal muscle, Myopathy, Increased va... ORPHA:397744
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity OMIM:608236
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased sensory nerve c... OMIM:603472
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Decreased compound muscle act... OMIM:301830
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal circulating enzyme concentration or acti... ORPHA:206443
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Gait ataxia OMIM:249900
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Hand muscle weakness, Ac... OMIM:302800
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity, Limb ataxia, Distal sensory impairment, Dysmetria, Gait atax... OMIM:603516
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased nerve conduction ve... OMIM:218000
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai... OMIM:601152
Friedreich Ataxia
Impaired vibratory sensation, Ataxia, Optic atrophy, Impaired proprioception, Limb ataxia, Gait a... OMIM:229300
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioception, Gait ataxia, Ab... ORPHA:88628
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Impaired temperature sensation, Distal sensory impairment, Distal amyotrophy,... ORPHA:36386
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated hepatic transaminase, Myopathy, Limb-girdle muscular dystrophy, Increased variability in... OMIM:612937
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve conduction velocity, Denervatio... OMIM:604320
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hand muscle weakness, Limb-girdle muscle weakness, Upper limb muscle weakness, Foot dorsiflexor w... ORPHA:466768
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Reduced leukocyte arylsulfatase A activity, Chorea, ... OMIM:250100
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment, Decrease... OMIM:256840
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Camptodactyly of finger ORPHA:2928
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Decreased compound muscle action potential amplitude, Small thenar eminence, Di... OMIM:620080
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Optic neuropathy, Tibialis muscle weakness, Optic atrophy, Distal sensor... ORPHA:320375
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decre... OMIM:606071
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity, Dysdiadochokinesis, Ataxia, Dysmetria OMIM:618356
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Elevated hepatic transaminase, Decreased muscle mass, ... ORPHA:298
Krabbe Disease
Decreased nerve conduction velocity, EEG abnormality, Reduced galactocerebrosidase activity, Opti... OMIM:245200
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Decreased nerve conduction velocity, EEG with burst s... OMIM:615368
Sialidosis Type 1
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia, EEG abnormality ORPHA:812
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Hepatomegaly ORPHA:93476
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Sensory a... OMIM:616192
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Skeletal muscle atrophy, Increased circulating lactate dehydrogena... OMIM:620138
Optic Atrophy 11
Ataxia, Optic nerve hypoplasia, Optic atrophy, EEG with focal sharp waves, Dysmetria, Facial dipl... OMIM:617302
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Chorea, Ataxia, Acute rhabdomyolysis OMIM:604168
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Optic atrophy, Choreoathetosis OMIM:608804
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Optic atrophy, Ataxia OMIM:256600
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased muscle mass, Intrinsic hand muscle atrophy, ... OMIM:615490
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Painless fractu... OMIM:201300
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Ataxia, Limb ataxia, Gait ataxia, Positive Rombe... OMIM:614575
Infantile Neuroaxonal Dystrophy
Ataxia, Flexion contracture, Optic atrophy, Abnormal autonomic nervous system physiology, Increas... ORPHA:35069
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Joint contracture, Optic atrophy OMIM:615419
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure OMIM:143500
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Chorea, Myopathy, Limb-girdle muscular dystrophy, Mu... ORPHA:369840
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Increased variability in muscle fiber diameter, Decrea... OMIM:619026
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Hepatomegaly, Ataxia, Facial palsy, Foot joint contrac... ORPHA:456312
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Decreased liver function OMIM:614863
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Flexion contracture OMIM:619851
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Chorea, Impaired distal vibration sensation, Impaired ... OMIM:606002
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Ataxia, Abnormal erythrocyte enzyme level, Optic atrop... ORPHA:1187
Primary Lateral Sclerosis, Juvenile
Decreased compound muscle action potential amplitude, Spasticity of facial muscles OMIM:606353
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Abnormal circulating enzyme concentration or activity, Decreased nerve conduct... ORPHA:565624
Friedreich Ataxia
Decreased motor nerve conduction velocity, Hand muscle atrophy, Chorea, Optic atrophy, Impaired p... ORPHA:95
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... OMIM:609136
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Lower limb amyotrophy, Lower limb muscle weakness OMIM:610532
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal circulating enzyme concentration or acti... ORPHA:206436
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Cholecy... ORPHA:309256
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Knee flexion contracture, Calf muscle hypertrophy, Muscle fi... OMIM:618733
Poliomyelitis
Skeletal muscle atrophy, Abnormal motor nerve conduction velocity, Hypoplasia of the musculature,... ORPHA:2912
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Impaired pain sensation, Impaired distal vibration sen... ORPHA:99949
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity, Distal amyotrophy, Foot dorsiflexor weakness, Distal sensory... ORPHA:477817
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Abnormality of peripheral nerve conduction ORPHA:168563
Scheie Syndrome
Abnormal nerve conduction velocity, Hepatomegaly ORPHA:93474
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... ORPHA:485421
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:277900
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Chorea, Optic atrophy, Progressive gait ataxia, Cholecystiti... ORPHA:309271
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Progressive gait ataxia, Optic atrophy, Cholecystitis ORPHA:309263
Chediak-Higashi Syndrome
Hepatomegaly, Ataxia, Decreased nerve conduction velocity, Jaundice, Foot dorsiflexor weakness OMIM:214500
Yuan-Harel-Lupski Syndrome
Decreased nerve conduction velocity, Distal sensory impairment, Gait ataxia OMIM:616652
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Limb joint contracture, Flexion contracture, Facial di... OMIM:618186
Cerebrotendinous Xanthomatosis
Optic disc pallor, Somatic sensory dysfunction, Abnormal circulating enzyme concentration or acti... ORPHA:909
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysesthesia, Impaired propriocep... ORPHA:79138
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Absent brainstem auditory responses, Hepatomegaly, Ataxia, Foot jo... ORPHA:90321
Chylomicron Retention Disease
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Impaired proprioception, ... ORPHA:71
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Hand mu... ORPHA:99956
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Optic atrophy, Ataxia OMIM:610651
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Decreased nerve conduction ve... OMIM:261515
Amyotrophic Lateral Sclerosis 4, Juvenile
Decreased compound muscle action potential amplitude, Distal amyotrophy OMIM:602433
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Decreased muscle mass, Flexion contracture, Optic atrophy OMIM:615663
Metachromatic Leukodystrophy
Abnormal circulating enzyme concentration or activity, Ataxia, Decreased nerve conduction velocit... ORPHA:512
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Foot dorsiflexor weakness, Distal sensory impairment OMIM:616039
Hurler Syndrome
Abnormal nerve conduction velocity, Macroglossia, Camptodactyly of finger, Hepatomegaly ORPHA:93473
Chédiak-Higashi Syndrome
Elevated hepatic transaminase, Somatic sensory dysfunction, Ataxia, Decreased nerve conduction ve... ORPHA:167
Multiple Sulfatase Deficiency
Hepatomegaly, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Friedreich Ataxia 2
Impaired vibratory sensation, Ataxia, Decreased pyruvate carboxylase activity, Abnormality of per... OMIM:601992
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Pain insensitivity, Facial hypotonia, Chorea, Dysmet... OMIM:615273
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Facial palsy, EEG with burst ... ORPHA:79139
Cockayne Syndrome
Elevated hepatic transaminase, Optic disc pallor, Somatic sensory dysfunction, Skeletal muscle at... ORPHA:191
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Rhabdomyolysis, Increased intramyocellular lipid droplets, Lowe... ORPHA:79102
Cockayne Syndrome A
Hip contracture, Hepatomegaly, Ataxia, Abnormal auditory evoked potentials, Decreased nerve condu... OMIM:216400
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Skeletal muscle atrophy, Flexion ... ORPHA:90324
Cockayne Syndrome B
Hepatomegaly, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, O... OMIM:133540
Choreoacanthocytosis
Impaired vibratory sensation, Hepatomegaly, Elevated circulating aspartate aminotransferase conce... ORPHA:2388
Mucopolysaccharidosis Type 2
Papilledema, Hepatomegaly, Decreased nerve conduction velocity, Optic atrophy, Macroglossia, Cont... ORPHA:580
Hereditary Sensory And Autonomic Neuropathy Type 4
Pain insensitivity, Orthostatic hypotension due to autonomic dysfunction, Somatic sensory dysfunc... ORPHA:642
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Aplasia/Hypoplasia of the abdominal wall musculature, Parest... 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

Order Mouse and ES Cells

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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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