Gene Summary

Name:
NK6 homeobox 2
Synonyms:
Gtx,  Nkx6.2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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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.

Phenotype associated images not available

Human diseases caused by Nkx6-2 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 Nkx6-2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Limb ataxia, Truncal ataxia, Cerebellar atrophy, CNS hypomyelination, Leukodystrophy OMIM:617560
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebral atrophy, Cerebellar atrophy, Ataxia, CNS hypomyelination, Leukodystrophy ORPHA:527497

The table below shows human diseases predicted to be associated to Nkx6-2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased distal sensory nerve action potential, Decreased nerve conduction velocity, Distal sens... OMIM:601098
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myelinated nerve f... OMIM:606482
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Distal sensory impairment, Hypertrophic nerve change... OMIM:214400
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation, Axonal loss OMIM:212890
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased amplitude of sensory action potentials, Distal sensory im... OMIM:608673
Charcot-Marie-Tooth Disease, Type 4J
Peripheral hypomyelination, Decreased nerve conduction velocity, Distal sensory impairment, Decre... OMIM:611228
Chronic Inflammatory Demyelinating Polyneuropathy
Decreased nerve conduction velocity, Abnormal nerve conduction velocity, Paresthesia, Spontaneous... ORPHA:2932
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired proprioception, Impaired temperature sensation, Hypertrophic nerve changes, Impaired pai... DECIPHER:29
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased sensory nerve conduction velocity, Distal sensory impairment, Axonal regeneration, Decr... OMIM:608323
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal sensory impairment, Peripheral axonal neuropathy, Facial palsy, Decreased number of periph... OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Distal sensory impairment, Axonal degeneration, Impaired distal vibration sensation, Decreased mo... OMIM:614436
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased distal sensory nerve action potential, Impaired pain sensation, Impaired distal vibrati... OMIM:607706
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination OMIM:608236
Null Syndrome
Optic atrophy, Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, Ataxia, ... ORPHA:280234
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Impaired distal vibration sensation, Impaired distal tactile sensat... OMIM:610100
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hand paresthesia, Froment sign, Decreased motor nerve conduction velocity, Segmental peripheral d... OMIM:162500
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination ORPHA:431329
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Clusters of ax... OMIM:607734
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Distal sensory impairment, Axonal deg... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4B1
Distal sensory impairment, Facial palsy, Abnormal auditory evoked potentials, Decreased motor ner... OMIM:601382
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction OMIM:612577
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy, Impaired vibration sensation in the lower limbs OMIM:165199
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Decreased moto... OMIM:605588
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Peripheral hypomyel... OMIM:605253
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Distal sensory impairment, Impaired distal proprioception, Peripheral axonal ne... OMIM:607250
Charcot-Marie-Tooth Disease Type 2B1
Distal sensory impairment, Axonal degeneration, Sensory axonal neuropathy, Decreased motor nerve ... ORPHA:98856
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Subacute Inflammatory Demyelinating Polyneuropathy
Demyelinating motor neuropathy, Decreased distal sensory nerve action potential, Decreased sensor... ORPHA:206594
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Drusen, Choroidal neovascularization, Distal sensory impairm... OMIM:608895
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Distal sensory impairment, Somatic sensory dysfunction... OMIM:615376
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Distal sensory impairment, Decreased compound muscle action potential amplitude, Vestibular schwa... OMIM:613641
Charcot-Marie-Tooth Disease, Type 4H
Peripheral hypomyelination, Distal sensory impairment, Decreased number of peripheral myelinated ... OMIM:609311
Roussy-Levy Hereditary Areflexic Dystasia
Distal sensory impairment, Hypertrophic nerve changes, Gait ataxia, Decreased number of periphera... OMIM:180800
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased sensory nerve conduction velocity, Distal sensory impairment, Decreased ... OMIM:609260
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Charcot-Marie-Tooth Disease Type 1A
Decreased sensory nerve conduction velocity, Distal sensory impairment, Demyelinating peripheral ... ORPHA:101081
Amyotrophic Lateral Sclerosis 4, Juvenile
Decreased compound muscle action potential amplitude, Axonal degeneration, Atrophy of the spinal ... OMIM:602433
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Dysdiadochokinesis, Gait ataxia, Choreoatheto... ORPHA:98890
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Impaired pain sensation, Decreased motor nerve conduction velocity, Decreased amplitude of sensor... OMIM:618912
Neuropathy, Hereditary Motor And Sensory, Russe Type
Peripheral hypomyelination, Distal sensory impairment, Axonal regeneration, Decreased number of l... OMIM:605285
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Distal sensory impairment, Peripheral demyelination ORPHA:99944
Charcot-Marie-Tooth Disease Type 1B
Somatic sensory dysfunction, Peripheral axonal neuropathy, Decreased nerve conduction velocity, P... ORPHA:101082
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Decreased nerve conduction velo... ORPHA:99939
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Distal sensory impairment, Axonal degeneration, Cerebellar atrophy, Decreased number of periphera... OMIM:302800
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Chorea, Ataxia, Decreased moto... OMIM:604168
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased compound muscle action potential amplitude, Decreased number of peripheral myelinated n... OMIM:600882
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Distal sensory impairment, Decrea... OMIM:607831
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy, Cerebellar atrophy, EEG with generalized polyspikes, Ataxia OMIM:614706
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Axonal degeneration, Chorea, Truncal ataxia, Impaired dis... OMIM:208920
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Sensory ataxia, Decreased number of peripheral myelinated nerve fibers, Decrease... OMIM:618184
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Impaired vibration sensation at ankles, Gait ataxia, Decreas... ORPHA:90103
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Distal sensory impairment, Decreased number of peripheral my... OMIM:604484
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Retinopathy, Ataxia, EEG abnormality, Neurod... OMIM:610951
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy, Distal sensory impairment OMIM:616451
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment OMIM:613287
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased number of peri... OMIM:615490
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, Atrophy/Degeneration af... OMIM:618404
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Central nervous system degeneration ORPHA:868
Charcot-Marie-Tooth Disease Type 4G
Decreased distal sensory nerve action potential, Distal sensory impairment, Impaired tactile sens... ORPHA:99953
Charcot-Marie-Tooth Disease Type 4A
Decreased nerve conduction velocity, Chronic axonal neuropathy, Distal sensory impairment, Impair... ORPHA:99948
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:620111
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Decreased nerve conduction velocity, Distal sensory impairment, Demyelinating peri... OMIM:612674
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Distal sensory impairment, Hypertrophic nerve changes, Decreased number of peripheral myelinated ... OMIM:118220
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb ataxia, Abnormal nerve conduction velocity, Atrophy/Degeneration affecting the brainstem, Ce... OMIM:619862
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Distal sensory impairment, Sensory ataxia, Gait ataxia, Basal lamina onion bulb formation, Decrea... OMIM:614895
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Distal sensory impairment, Compound muscle action potential amplitude facilitation, Decreased com... OMIM:616040
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Axonal degeneration/regeneration, Onion bulb formation, Somatic sen... OMIM:620378
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Ataxia, Abnormal nerve conduction velocity ORPHA:101075
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Ataxia, Impaired pain sensation, Abnormal nerve conduction velocity ORPHA:99014
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Impaired distal t... OMIM:616687
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Distal sensory impairment, Chronic axonal neuropathy OMIM:606595
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction ORPHA:65684
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Bone spicule pigmentation of the retina, Abnormal peripheral nerve morph... ORPHA:88628
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Distal sensory impairment, Hypertrophic nerve changes, Decreased number of peripheral myelinated ... OMIM:118200
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Distal sensory impairment, Brain atrophy, Onion bulb formati... OMIM:615284
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Paresthesia ORPHA:640
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Sensory axonal neuropathy, ... ORPHA:457205
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Axonal degeneration, Abnormal autonomic nervous system physiology, Optic ne... ORPHA:478029
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased distal sensory nerve action potential, Distal sensory impairment, Impaired pain sensati... OMIM:607684
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Distal sensory impairment, Impaired distal proprioception, A... OMIM:601455
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:302801
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Abnormal motor nerve conduction velocity ORPHA:139536
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Global brain atrophy, Axonal degeneration, Cerebellar atrophy, Optic neuropathy, R... OMIM:616811
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Diff... OMIM:619279
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:612712
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment OMIM:600361
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia OMIM:249900
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased sensory nerve conduction velocity, Distal sensory impairment, Hypertrophic nerve change... OMIM:145900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Distal sensory impairment, Decreased compound muscle action potential amplitude, Impaired pain se... OMIM:618279
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Distal sensory impairment, Segmental peripheral demyelination/r... OMIM:607791
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Distal sensory impairment, Axonal degeneration OMIM:616155
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
X-Linked Charcot-Marie-Tooth Disease Type 6
Impaired vibration sensation in the lower limbs, Decreased nerve conduction velocity, Distal sens... ORPHA:352675
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Demyelinating peripheral neuropathy, Peripheral axonal neuropathy, D... ORPHA:101077
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Optic atrophy, Peripheral axonal neuropathy, Sensory ataxia, Gait ataxia, Impaired vibratory sens... OMIM:620221
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Decreased nerve conduction velocity, Ataxia ORPHA:1188
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Motor axonal neuropathy, Abolished vibration sense, Ax... OMIM:620068
Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, CNS ... OMIM:245200
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased sensory nerve conduction velocity, Chronic axonal neuropathy, Distal sensory impairment... OMIM:162400
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity, Ataxia OMIM:183050
Roussy-Lévy Syndrome
Limb ataxia, Impaired temperature sensation, Impaired pain sensation, Gait ataxia, Acute demyelin... ORPHA:3115
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity, Distal sensory impairment, Impaired vibration sensation in t... OMIM:159550
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Decreased nerve conduction velocity, Ataxia ORPHA:101078
Indifference To Pain, Congenital, Autosomal Recessive
Impaired proprioception, Abnormal nerve conduction velocity, Impaired temperature sensation, Impa... OMIM:243000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude OMIM:619112
Leukodystrophy, Hypomyelinating, 2
Demyelinating motor neuropathy, Optic atrophy, Cerebral atrophy, Sensory axonal neuropathy, Facia... OMIM:608804
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Decreased distal sensory nerve action potential, Peripheral axonal neuropathy, Impaired distal ta... OMIM:618400
Spinocerebellar Ataxia Type 1
Optic atrophy, Impaired proprioception, Progressive cerebellar ataxia, Abnormal flash visual evok... ORPHA:98755
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Decreased nerve conduction velocity, Distal sensory impairment, Impaired tactile sensation, Impai... ORPHA:435387
Autosomal Recessive Spastic Paraplegia Type 21
Frontotemporal cerebral atrophy, Abnormality of peripheral nerve conduction ORPHA:101001
Charcot-Marie-Tooth Disease, Type 4B2
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Decreased moto... OMIM:604563
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination, Abnormal autonomic nervous system physiology DECIPHER:59
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Ataxia, Abnormality of the autonomic nervous system ORPHA:1186
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Ataxia ORPHA:1368
Amyotrophy, Hereditary Neuralgic
Brachial plexus neuropathy, Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Abnormal motor nerve conduction velocity OMIM:158580
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti... OMIM:609033
Retinitis Pigmentosa 71
Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude OMIM:605726
Ataxia, Sensory, 1, Autosomal Dominant
Impaired distal proprioception, Positive Romberg sign, Dysesthesia, Impaired distal vibration sen... OMIM:608984
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal sensory impairment, Impaired distal vibration sensation, Decreased compound muscle action ... OMIM:619519
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Leukodystrophy, Choreoathetosis OMIM:614932
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Peripheral hypomyelination, Chorea, Cerebral cortical atrophy, Ataxia, Abnormality of peripheral ... ORPHA:48431
Leukodystrophy, Hypomyelinating, 24
Cerebral atrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Leukod... OMIM:619851
Charcot-Marie-Tooth Disease Type 1F
Demyelinating motor neuropathy, Limb ataxia, Demyelinating sensory neuropathy, Decreased nerve co... ORPHA:101085
Lower Motor Neuron Syndrome With Late-Adult Onset
Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity ORPHA:276435
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased sensory nerve conduction velocity, Distal sensory impairment, Cerebellar vermis atrophy... OMIM:270550
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Degeneration of anterior horn cells, Peripheral axonal degeneration, Decreased nerve conduction v... OMIM:604320
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Limb ataxia, Decreased distal sensory nerve action potential, Impaired pain sensation, Positive R... OMIM:614575
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Dysesthesia, Decreased amplitude of sensory action potential... ORPHA:85446
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Neuronal loss in central ne... OMIM:256600
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Interictal epil... OMIM:218000
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebral atrophy, Decreased sensory nerve conduction velocity, Atrophy/Degeneration affecting the... OMIM:616192
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Distal sensory impairment OMIM:302802
Charcot-Marie-Tooth Disease Type 4D
Distal sensory impairment, Demyelinating peripheral neuropathy, Decreased amplitude of sensory ac... ORPHA:99950
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia ORPHA:66631
Digital Extensor Muscle Aplasia-Polyneuropathy
Impaired pain sensation, Abnormal nerve conduction velocity ORPHA:2926
Autosomal Dominant Spastic Paraplegia Type 17
Distal sensory impairment, Abnormal motor nerve conduction velocity ORPHA:100998
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Impaired pain sensation, Ab... ORPHA:139578
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Painless fractures due to injury, Decreased sensory nerve conduction velocity, Decreased nerve co... OMIM:201300
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Axonal degeneration OMIM:620011
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal seventh cranial physiology, Distal sensory impairment, Somatic sensory dysfunction, Abno... ORPHA:90117
Spinocerebellar Ataxia 1
Optic atrophy, Limb ataxia, Decreased sensory nerve conduction velocity, Impaired proprioception,... OMIM:164400
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Distal sensory impairment, Impaired distal proprioception, Impaired distal vibration sensation, G... OMIM:616688
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity, Truncal ataxia, Chorioretinal atrophy, Dysdiadochokinesis, C... OMIM:238970
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Distal sensory impairment, Axonal loss OMIM:118300
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:610532
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Distal sensory impairment, Positive Romberg sign, Abnormality of visual evoked pot... OMIM:601152
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration OMIM:618811
Spinocerebellar Ataxia 10
Limb ataxia, Decreased nerve conduction velocity, Progressive cerebellar ataxia, Distal sensory i... OMIM:603516
Friedreich Ataxia
Optic atrophy, Limb ataxia, Decreased sensory nerve conduction velocity, Impaired proprioception,... OMIM:229300
Leukoencephalopathy With Ataxia
Limb ataxia, Choroidal neovascularization, Chorioretinal atrophy, Retinoschisis, Optic neuropathy... OMIM:615651
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Abnormal myelination ORPHA:401830
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity OMIM:615575
Spastic Paraplegia 17, Autosomal Dominant
Impaired distal proprioception, Decreased motor nerve conduction velocity, Impaired vibration sen... OMIM:270685
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Hand paresthesia, Distal sensory impairment, Impaired pain sensation, Impaired vibration sensatio... OMIM:613640
Adrenomyeloneuropathy
Cerebral dysmyelination, Distal sensory impairment, Axonal degeneration, Abnormality of periphera... ORPHA:139399
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Abnormal myelination ORPHA:401820
Lethal Ataxia With Deafness And Optic Atrophy
Optic atrophy, Spinal cord posterior columns myelin loss, EEG with focal epileptiform discharges,... ORPHA:1187
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Chorea, Ataxia, Peripheral demyelination OMIM:250100
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Progressive cerebellar ataxia, Demyelinating peripheral neuropathy, Dysdiadochokin... ORPHA:504476
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Ataxia, S... OMIM:603472
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Abnormal myelination ORPHA:352682
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Distal sensory impairment, Peripheral axonal neuropathy, Atrophy of the spinal cord, Decreased am... OMIM:256840
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Optic nerve hypoplasia, EEG with foca... OMIM:617302
Congenital Myopathy 10A, Severe Variant
Facial palsy, Abnormal motor nerve conduction velocity OMIM:614399
De Sanctis-Cacchione Syndrome
Optic atrophy, Cerebral atrophy, Global brain atrophy, Axonal degeneration, Ataxia, Choreoathetos... OMIM:278800
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity, Dysdiadochokinesis, Cerebellar atrophy, Ataxia, Dysmetria OMIM:618356
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Decreased nerve conduction velocity, Abnormal CNS myelination, Cerebellar atrophy,... OMIM:610651
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, Cerebellar atrophy, Abnormali... ORPHA:485421
Cerebrotendinous Xanthomatosis
Optic atrophy, Global brain atrophy, Decreased nerve conduction velocity, Axonal degeneration, Ab... ORPHA:909
Combined Oxidative Phosphorylation Defect Type 13
Delayed myelination, Decreased nerve conduction velocity, Choreoathetosis ORPHA:319514
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Brain atrophy, Abnormal myelination ORPHA:85179
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Decreased motor nerve conduction velocity OMIM:613724
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Decreased nerve conduction velocity, Gait ataxia, Abnormality of visual evoked pot... ORPHA:309256
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Hypoesthesia, Axonal degeneration OMIM:106100
Hereditary Sensory And Autonomic Neuropathy Type 1
Distal sensory impairment, Trophic changes related to pain, Impaired temperature sensation, Abnor... ORPHA:36386
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11
Decreased compound muscle action potential amplitude, Peripheral axonal neuropathy, Impaired vibr... OMIM:620528
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Infantile Neuroaxonal Dystrophy
Optic atrophy, Peripheral axonal neuropathy, Cerebellar atrophy, Abnormal autonomic nervous syste... ORPHA:35069
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Ataxia ORPHA:1933
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Retinal detachment, Impaired pain sensation, Pain insensitivi... OMIM:182290
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Impaired proprioception, Pontocerebellar atrophy, Chronic axonal neuropathy, Periphe... OMIM:606002
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral atrophy, Peripheral hypomyelination, Cerebral dysmyelination, Decreased nerve conduction... OMIM:609136
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Decreased distal sensory nerve action potential, Impaired tactile sensation, Sensory axonal neuro... ORPHA:466768
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Prog... ORPHA:309263
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Decreased sensory nerve conduction velocity, Distal sensory impairment, Optic neur... ORPHA:320375
Friedreich Ataxia
Optic atrophy, Limb ataxia, Impaired proprioception, Chorea, Sensory axonal neuropathy, Gait atax... ORPHA:95
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Amyotrophic Lateral Sclerosis 21
Decreased nerve conduction velocity, Distal sensory impairment, Amyotrophic lateral sclerosis, Ab... OMIM:606070
Spinal Muscular Atrophy, X-Linked 2
Degeneration of anterior horn cells, Facial palsy, Decreased compound muscle action potential amp... OMIM:301830
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Ataxia, Leber optic ... OMIM:535000
Neuromuscular Oculoauditory Syndrome
Peripheral hypomyelination, Decreased nerve conduction velocity, Sensory axonal neuropathy, Decre... OMIM:618733
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Abnormal peripheral myelination, Abnormal peripheral ... ORPHA:168563
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Distal sensory impairment, Optic disc pallor, Optic ne... ORPHA:101076
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93476
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased sensory nerve conduction velocity, Demyelinating peripheral neuropathy, Peripheral axon... ORPHA:298
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Decreased nerve conduction velocity, Retinal dystrophy, Ataxia, Rod-cone dystrophy OMIM:614863
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Cerebral atrophy, Hypsarrhythmia, EEG with multifocal slow activity, Brain atrophy... ORPHA:442835
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Impaired pain sensation, Demyelinating peripheral neuropathy, Positive Romberg sig... ORPHA:99949
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Decreased compound muscle action potential amplitude OMIM:606353
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, Atrophy/Degeneration affec... ORPHA:565624
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Decreased compound muscle action potential amplitude OMIM:603511
Sialidosis Type 1
Decreased nerve conduction velocity, Retinopathy, Ataxia, Cherry red spot of the macula, EEG abno... ORPHA:812
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Decreased nerve conduction velocity, Chorea, Abnormality of visual evoked potentia... ORPHA:309271
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Distal sensory impairment, Impaired temperature sensation, A... ORPHA:90658
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Distal sensory impairment, Amyotrophic lateral sclerosis ORPHA:600
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Decreased motor nerve conduction velocity OMIM:615419
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia,... ORPHA:101
Yuan-Harel-Lupski Syndrome
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Distal sensory impairme... OMIM:616652
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Kanzaki Disease
Cerebral atrophy, Peripheral axonal neuropathy, Distal sensory impairment, Axonal degeneration OMIM:609242
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, EEG with burst suppression, Retinal hemorrhage OMIM:615368
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Facial diplegia ORPHA:329478
Neuropathy, Congenital Hypomyelinating, 3
CNS hypomyelination, Facial diplegia, Cerebellar atrophy, Decreased motor nerve conduction velocity OMIM:618186
Bickerstaff Brainstem Encephalitis
Impaired proprioception, Abnormal cranial nerve morphology, Dysesthesia, Facial palsy, Sensory at... ORPHA:79138
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Limb ataxia, Truncal ataxia, Cerebellar atrophy, CNS hypomyelination, Leukodystrophy OMIM:617560
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity, Distal sensory impairment, Decreased number of peripheral my... ORPHA:477817
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
EEG with multifocal slow activity, Diffuse cerebral atrophy, Abnormal myelination ORPHA:289266
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:619026
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity ORPHA:397744
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of peripheral nerve conduction ORPHA:585
Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93474
Cockayne Syndrome A
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Retinal atrophy, Abnormal a... OMIM:216400
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Ataxia, Neurodegeneration, Macular hypoplasia, Ocular albinism OMIM:214500
Warburg Micro Syndrome 4
Optic atrophy, Decreased motor nerve conduction velocity, Cerebral cortical atrophy, Cerebellar a... OMIM:615663
Benign Schwannoma
Abnormality of the twelfth cranial nerve, Peripheral schwannoma, Abnormal cranial nerve morpholog... ORPHA:252164
Cockayne Syndrome
Optic atrophy, Cerebral atrophy, Cerebral dysmyelination, Decreased nerve conduction velocity, Re... ORPHA:191
Cockayne Syndrome B
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked po... OMIM:133540
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebral atrophy, Cerebellar atrophy, Ataxia, CNS hypomyelination, Leukodystrophy ORPHA:527497
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Ataxia, Abnormality of peripheral nerve condu... ORPHA:90321
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased sensory nerve conduction velocity, Facial palsy, Ataxia, Decreased motor nerve conducti... ORPHA:456312
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Decreased distal sensory nerve action potential, Distal sensory impairment, Myelin... ORPHA:99956
Cockayne Syndrome Type 3
Retinal dystrophy, Demyelinating peripheral neuropathy, Peripheral axonal neuropathy, Retinal atr... ORPHA:90324
Renal Coloboma Syndrome
Optic nerve dysplasia, Optic disc coloboma, Retinal coloboma ORPHA:1475
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude OMIM:620080
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Cerebral dysmyelination, Cerebellar atrophy, Corpus callosum... OMIM:261515
Hurler Syndrome
Retinopathy, Abnormal nerve conduction velocity ORPHA:93473
Chédiak-Higashi Syndrome
Decreased nerve conduction velocity, Brain atrophy, Atrophy of the spinal cord, Cerebellar atroph... ORPHA:167
Poliomyelitis
Paresthesia, Abnormal motor nerve conduction velocity ORPHA:2912
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Ataxia ORPHA:512
Pelizaeus-Merzbacher Disease, Connatal Form
Ataxia, Abnormal myelination, Cerebral hypomyelination ORPHA:280210
Mucopolysaccharidosis Type 2
Optic atrophy, Decreased nerve conduction velocity, Retinopathy, Abnormal foveal morphology, Papi... ORPHA:580
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Cerebral atrophy, Chorea, Athetosis, Cerebellar atrophy, Pigmentary retinopathy, D... ORPHA:404454
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential, Distal sensory impairment OMIM:606071
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Chorea, Athetosis, Delayed myelination, Pain insensi... OMIM:615273
Japanese Encephalitis
Interictal epileptiform activity, Facial palsy, Decreased motor nerve conduction velocity, EEG ab... ORPHA:79139
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Wilson Disease
Decreased nerve conduction velocity, Mixed demyelinating and axonal polyneuropathy, Hypoesthesia OMIM:277900
Hereditary Sensory And Autonomic Neuropathy Type 4
Distal sensory impairment, Impaired temperature sensation, Hyperesthesia, Abnormality of the auto... ORPHA:642
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormality of peripheral nerve conduction, Ataxia OMIM:601992
Choreoacanthocytosis
Peripheral axonal neuropathy, Chorea, Frontal cortical atrophy, Abnormal autonomic nervous system... ORPHA:2388
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Abnormal CNS myelination, Retinal arterial tortuosity, Hypsarrhythmia, Retinal detachment, Retina... OMIM:620371
Monosomy 18Q
Choreoathetosis, Abnormal myelination, Abnormal retinal morphology ORPHA:1600
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Paresthesia ORPHA:285
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Truncal ataxia, Dysdiadochokinesis, Abnormal myelination ORPHA:309854
Degcags Syndrome
Abnormal myelination OMIM:619488
Orofaciodigital Syndrome Type 14
Abnormal myelination, Retinal coloboma ORPHA:434179

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 Nkx6-2

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 Nkx6-2.

No publications found that use IMPC mice or data for Nkx6-2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nkx6-2em1(IMPC)H Exon Deletion Mice
Nkx6-2tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Nkx6-2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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