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Gene: Nkx6-2 MGI:1352738

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Gene Summary

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

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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.

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
Truncal ataxia, Leukodystrophy, Limb ataxia, CNS hypomyelination, Cerebellar atrophy OMIM:617560
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Leukodystrophy, Ataxia, Dysesthesia, CNS hypomyelination, Cerebral atrophy, Cerebellar atrophy 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
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation, Axonal loss OMIM:212890
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Axonal degeneration... OMIM:606482
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Gait ataxia, Onion bulb formation, Paresthesia, Hypertrophic nerve changes, Decreased motor nerve... OMIM:601098
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Charcot-Marie-Tooth Disease, Type 4J
Onion bulb formation, Axonal loss, Decreased motor nerve conduction velocity, Peripheral hypomyel... OMIM:611228
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Impaired pain sensation, I... DECIPHER:29
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Abnormal nerve conduction velocity, Paresthesia, Motor conduction bl... ORPHA:2932
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Onio... OMIM:607706
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Impaired distal vibration sensation, Axonal degeneration, Peripheral axonal degeneration, Decreas... OMIM:614436
Giant Axonal Neuropathy 2, Autosomal Dominant
Impaired distal vibration sensation, Onion bulb formation, Decreased motor nerve conduction veloc... OMIM:610100
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Hypoesthesia, Hand paresthesia, Segmenta... OMIM:162500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:607734
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination, Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Null Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy, Demyelinating peripheral neuropathy, A... ORPHA:280234
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Axonal regeneration, Distal sensory impairment, Decrea... OMIM:608323
Amyotrophic Lateral Sclerosis 11
Somatic sensory dysfunction, Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Charcot-Marie-Tooth Disease, Type 4C
Axonal degeneration, Segmental peripheral demyelination, Peripheral axonal degeneration, Decrease... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Myelin outfolding... OMIM:601382
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Progressive gait ataxia, Demyelinating sensory neuropathy, Acroparesthesia, Symmetrical progressi... ORPHA:208981
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Optic atrophy OMIM:165199
Charcot-Marie-Tooth Disease Type 1A
Acute demyelinating polyneuropathy, Paresthesia, Decreased motor nerve conduction velocity, Demye... ORPHA:101081
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:605588
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Motor conduction block, Abnormality of somatosensory evoked potentia... ORPHA:206594
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Motor axonal neuropa... ORPHA:98856
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... OMIM:605253
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Gait ataxia, Impaired vibration sensation at ankles, Abnormality of peripheral nerve conduction, ... ORPHA:90103
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Impaired pain sensation, Decreased amplitude of sensor... OMIM:618912
Macular Degeneration, Age-Related, 3
Macular degeneration, Choroidal neovascularization, Drusen, Decreased nerve conduction velocity, ... OMIM:608895
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Distal sensory impairment, Vestibular schwa... OMIM:613641
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased number of large... OMIM:615376
Roussy-Levy Hereditary Areflexic Dystasia
Gait ataxia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypert... OMIM:180800
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:609311
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Optic atrophy, Decr... OMIM:609260
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Peripheral hypomyelination, Decre... OMIM:605285
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Paresthesia ORPHA:640
Early-Onset X-Linked Optic Atrophy
Gait ataxia, Optic atrophy, Dysdiadochokinesis, Choreoathetosis, Decreased nerve conduction veloc... ORPHA:98890
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Peripheral axonal degeneration, Abnormal lower motor neuron ... OMIM:602433
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:601455
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:620111
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Distal sensory impairment, Peripheral demyelination ORPHA:99944
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Axonal degener... OMIM:604484
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Decreased motor nerv... OMIM:607831
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Somatic sensory dysfunction, Decreased mo... OMIM:600882
Charcot-Marie-Tooth Disease Type 1B
Somatic sensory dysfunction, Peripheral dysmyelination, Decreased nerve conduction velocity, Peri... ORPHA:101082
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Somatic sensory dysfunction, Abnormal motor evoked potentials, Demyelinating sensory neuropathy, ... ORPHA:99939
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Axonal degeneration... OMIM:302800
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Chorea, Impaired distal vibration sensation, Axonal degeneration, Truncal ataxia, Pe... OMIM:208920
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Distal ... OMIM:607677
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Chorea, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Ataxia, Periph... OMIM:604168
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Decreased compound muscle action potential amplitude, Distal sensory impairment, Compound muscle ... OMIM:616040
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Distal sensory impairment, Optic atrophy OMIM:616451
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Axonal loss, Peripheral axonal degeneration, Impaired tactile sensatio... ORPHA:101097
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:618184
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:302801
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Distal sensory impairment, Peripheral axonal neuropathy OMIM:613287
Charcot-Marie-Tooth Disease Type 4G
Motor conduction block, Decreased motor nerve conduction velocity, Demyelinating peripheral neuro... ORPHA:99953
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy, EEG with generalized polyspikes, Ataxia, Cerebellar atrophy OMIM:614706
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Central nervous system degeneration ORPHA:868
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:118220
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Distal sensory impairment, Segmental peripheral demyelination/r... OMIM:607791
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Gait ataxia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decrea... OMIM:614895
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Abnormal motor nerve conduction velocity ORPHA:139536
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:615490
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia ORPHA:101075
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Rod-cone dystrophy, Optic atrophy, Demyelinating peripheral neuropathy, Ataxia, Dysmetria, Decrea... OMIM:612674
Spinocerebellar Ataxia, Autosomal Recessive 32
Gait ataxia, Somatic sensory dysfunction, Abnormal nerve conduction velocity, Limb ataxia, Cerebe... OMIM:619862
Leukodystrophy, Hypomyelinating, 18
Demyelinating peripheral neuropathy, Dysmetria, Decreased nerve conduction velocity, Abnormal mot... OMIM:618404
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination OMIM:249900
Charcot-Marie-Tooth Disease Type 4A
Impaired distal vibration sensation, Chronic axonal neuropathy, Motor conduction block, Demyelina... ORPHA:99948
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells ORPHA:65684
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:118200
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Optic atrophy, EEG abnormality, Ataxia, Cerebral atrophy, Cerebellar atrophy, Neurod... OMIM:610951
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Brain atrophy, Decreased nerve conduction velocity, Distal sensory impairme... OMIM:615284
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Distal sensory impairment OMIM:606595
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
X-Linked Charcot-Marie-Tooth Disease Type 6
Impaired vibration sensation in the lower limbs, Decreased nerve conduction velocity, Distal sens... ORPHA:352675
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Gait ataxia, Impaired vibration sensation in the lower limbs, Rod-cone dystrophy, Abnormal sensor... ORPHA:88628
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity, Ataxia OMIM:183050
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Distal sensory impairment, Axonal degeneration OMIM:616155
Neuronopathy, Distal Hereditary Motor, Type Vc
Decreased compound muscle action potential amplitude OMIM:619112
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Impaired distal vibration sensation, Onion bulb formation, Decreased motor nerve conduction veloc... OMIM:607684
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Onio... OMIM:145900
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia ORPHA:99014
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired distal vibration sensation, Onion bulb formation, Impaired pain sensation, Decreased com... OMIM:618279
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, EEG abnormality, Motor axonal neuropathy, Sensory axonal neuropathy, Decreased ner... ORPHA:457205
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Impaired distal tactile sensation, Decreased number of peripheral myelinated nerve fibers, Impair... OMIM:607080
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Distal sensory impairment, Peripheral axonal neuropathy OMIM:600361
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Decreased nerve conduction velocity, Ataxia ORPHA:101078
Combined Oxidative Phosphorylation Deficiency 29
Global brain atrophy, Retinopathy, Optic atrophy, Delayed CNS myelination, Optic neuropathy, Cere... OMIM:616811
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Decr... OMIM:619279
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Delayed myelination, Retinopathy, Abnormal autonomic nervous system physiol... ORPHA:478029
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Impaired distal tactile sen... OMIM:162400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Ataxia ORPHA:1368
Roussy-Lévy Syndrome
Gait ataxia, Somatic sensory dysfunction, Acute demyelinating polyneuropathy, Decreased motor ner... ORPHA:3115
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Paresthesia, Abnormal autonomic nervous system physiology, Im... OMIM:243000
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Cerebral cortical atrophy, Ataxia ORPHA:1188
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude OMIM:605726
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Impaired distal vibration sensation, Decreased compound muscle action potential amplitude, Distal... OMIM:619519
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Abolished vibration sense, Motor axonal neuropathy, Ax... OMIM:620068
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Impaired distal tactile sensation, Peripheral axonal neuropathy, Decreased distal sensory nerve a... OMIM:618400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Krabbe Disease
Optic atrophy, EEG abnormality, CNS demyelination, Diffuse cerebral atrophy, Decreased nerve cond... OMIM:245200
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Peripheral axonal neuropa... ORPHA:101077
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Decreased motor nerve conduction velocity, Leukodystrophy, Cerebral hypomyelinatio... OMIM:608804
Ataxia-Pancytopenia Syndrome
Impaired vibration sensation in the lower limbs, Ataxia, Dysmetria, Decreased nerve conduction ve... OMIM:159550
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:604563
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Impaired vibration sensation in the lower limbs, Impaired distal vibration sensation, Abolished v... ORPHA:435387
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Choreoathetosis, Decreased nerve conduction velocity OMIM:614932
Spinocerebellar Ataxia Type 1
Chorea, Abnormal nerve conduction velocity, Abnormality of somatosensory evoked potentials, Dysdi... ORPHA:98755
Developmental And Epileptic Encephalopathy 17
Chorea, Delayed myelination, Hypsarrhythmia, Cerebral atrophy, Athetosis OMIM:615473
Posterior Column Ataxia With Retinitis Pigmentosa
Impaired vibration sensation in the lower limbs, Pigmentary retinopathy, Rod-cone dystrophy, Opti... OMIM:609033
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Distal sensory impairment OMIM:302802
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration, Brachial plexus neuropathy OMIM:162100
Lower Motor Neuron Syndrome With Late-Adult Onset
Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity ORPHA:276435
Charcot-Marie-Tooth Disease Type 4D
Somatic sensory dysfunction, Decreased motor nerve conduction velocity, Demyelinating peripheral ... ORPHA:99950
Retinitis Pigmentosa 71
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... OMIM:616394
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Leukodystrophy, Peripheral axonal neuropathy, Cerebral... OMIM:619851
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system, Ataxia ORPHA:1186
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology, Leukodystrophy, Peripheral demyelination DECIPHER:59
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction, Frontotemporal cerebral atrophy ORPHA:101001
Spastic Ataxia, Charlevoix-Saguenay Type
Impaired vibration sensation in the lower limbs, Onion bulb formation, Spastic ataxia, Cerebellar... OMIM:270550
Autosomal Dominant Spastic Paraplegia Type 17
Distal sensory impairment, Abnormal motor nerve conduction velocity ORPHA:100998
Digital Extensor Muscle Aplasia-Polyneuropathy
Impaired pain sensation, Abnormal nerve conduction velocity ORPHA:2926
Charcot-Marie-Tooth Disease Type 1F
Gait ataxia, Somatic sensory dysfunction, Paresthesia, Absent brainstem auditory responses, Limb ... ORPHA:101085
Wild Type Abeta2M Amyloidosis
Paresthesia, Axonal loss, Decreased amplitude of sensory action potentials, Decreased nerve condu... ORPHA:85446
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Gait ataxia, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction veloci... OMIM:616192
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Gait ataxia, Impaired distal vibration sensation, Decreased motor nerve conduction velocity, Decr... OMIM:616688
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Somatic sensory dysfunction, Abnormal peripheral action... ORPHA:90117
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal degeneration, Degener... OMIM:604320
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Gait ataxia, Cerebellar vermis atrophy, Axonal loss, Abnormal autonomic nervous system physiology... OMIM:614575
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Paresthesia, Cerebral cortical atrophy, Motor axonal ... ORPHA:48431
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity OMIM:615575
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Axonal degeneration, Peripheral axonal neuropathy OMIM:620011
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Onion bulb formation, Decreased motor nerve conduction velocity, Demyelinating peripheral neuropa... OMIM:218000
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Impaired pain sensation, Abnormal autonomic nervous sy... ORPHA:139578
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia ORPHA:66631
Spastic Paraplegia 17, Autosomal Dominant
Impaired distal proprioception, Decreased motor nerve conduction velocity, Impaired distal tactil... OMIM:270685
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Impaired vibration sensation in the lower limbs, Decreased motor nerve conduction velocity, Hand ... OMIM:613640
Spinocerebellar Ataxia 1
Chorea, Paresthesia, Dysdiadochokinesis, Optic atrophy, Truncal ataxia, Decreased motor nerve con... OMIM:164400
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Pain... OMIM:201300
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:118300
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration OMIM:618811
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Ataxia, Neuronal loss in central nervous system, Decreased nerve conduction veloci... OMIM:256600
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Decreased sensory... OMIM:603472
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Cerebral cortical atrophy, Dysdiadochokinesis, Truncal ataxia, Hypopigmentation of the fundus, Dy... OMIM:238970
Spinocerebellar Ataxia 10
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Dysmetria, Decreased nerve conduction velocity, Cer... OMIM:603516
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Peri... OMIM:256840
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased motor nerve conduction velocity, Positive Romberg sig... OMIM:601152
Lethal Ataxia With Deafness And Optic Atrophy
Abnormality of somatosensory evoked potentials, Optic atrophy, Decreased motor nerve conduction v... ORPHA:1187
Metachromatic Leukodystrophy
Chorea, Optic atrophy, Ataxia, Decreased nerve conduction velocity, Peripheral demyelination OMIM:250100
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Cerebral cortical atrophy ORPHA:401830
Leukoencephalopathy With Ataxia
Gait ataxia, Choroidal neovascularization, Limb ataxia, Retinoschisis, Chorioretinal atrophy, Opt... OMIM:615651
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination, Cerebral cortical atrophy ORPHA:401820
Friedreich Ataxia
Gait ataxia, Optic atrophy, Decreased amplitude of sensory action potentials, Limb ataxia, Ataxia... OMIM:229300
Adrenomyeloneuropathy
Abnormality of central somatosensory evoked potentials, Peripheral axonal degeneration, Distal se... ORPHA:139399
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination, Optic atrophy ORPHA:352682
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Leukodystrophy, Onion bulb formation, CNS hypomyelination OMIM:610532
Combined Oxidative Phosphorylation Defect Type 13
Choreoathetosis, Decreased nerve conduction velocity, Delayed myelination ORPHA:319514
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Abnormal CNS myelination, Ataxia, Decreased nerve conduction velocity, Cerebellar ... OMIM:610651
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Ataxia, Dysmetria, Decreased nerve conduction velocity, Cerebellar atrophy OMIM:618356
Congenital Myopathy 10A, Severe Variant
Abnormal motor nerve conduction velocity, Facial palsy OMIM:614399
De Sanctis-Cacchione Syndrome
Global brain atrophy, Optic atrophy, Leukodystrophy, Choreoathetosis, Ataxia, Cerebral atrophy, A... OMIM:278800
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration, Hypoesthesia OMIM:106100
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination, Brain atrophy, Cerebral atrophy ORPHA:85179
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Optic Atrophy 11
Brain atrophy, Optic atrophy, Ataxia, Optic nerve hypoplasia, Facial diplegia, EEG with focal sha... OMIM:617302
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Gait ataxia, Optic atrophy, Dysdiadochokinesis, Demyelinating peripheral neuropathy, Dysmetria, P... ORPHA:504476
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Impaired tactile sensation, Abnormal CNS myelinat... ORPHA:206443
Abetalipoproteinemia
Retinopathy, Retinal degeneration, CNS demyelination, Ataxia, Peripheral demyelination OMIM:200100
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
Folinic Acid-Responsive Seizures
Chorea, Delayed myelination, Frontotemporal cerebral atrophy, Optic atrophy, Hypsarrhythmia, Mult... ORPHA:79097
Hereditary Sensory And Autonomic Neuropathy Type 1
Motor axonal neuropathy, Decreased amplitude of sensory action potentials, Abnormality of the aut... ORPHA:36386
Cerebrotendinous Xanthomatosis
Somatic sensory dysfunction, Global brain atrophy, Abnormality of somatosensory evoked potentials... ORPHA:909
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Gait ataxia, Chorea, Impaired distal vibration sensation, Chronic axonal neuropathy, Progressive ... OMIM:606002
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Ataxia ORPHA:1933
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Optic atrophy, Progressive gait ataxia, Leukodystrophy, Decreased nerve conduction v... ORPHA:309256
Spinal Muscular Atrophy, X-Linked 2
Facial palsy, Decreased compound muscle action potential amplitude, Degeneration of anterior horn... OMIM:301830
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, EEG abnormality, Hypsarrhythmia, Decreased nerve conduction velocity, Cerebellar a... ORPHA:485421
Friedreich Ataxia
Gait ataxia, Chorea, Optic atrophy, Decreased motor nerve conduction velocity, Limb ataxia, Cervi... ORPHA:95
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93476
Infantile Neuroaxonal Dystrophy
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormal autonomic nervous system phys... ORPHA:35069
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Somatic sensory dysfunction, Brain atrophy, Motor axonal neuropathy, Abnormal peripheral myelinat... ORPHA:466768
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia OMIM:246000
Autosomal Recessive Spastic Paraplegia Type 55
Onion bulb formation, Optic atrophy, Decreased sensory nerve conduction velocity, Optic neuropath... ORPHA:320375
Primary Lateral Sclerosis, Juvenile
Decreased compound muscle action potential amplitude, Cerebral cortical atrophy OMIM:606353
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Decreased compound muscle action potential amplitude, Facial palsy OMIM:603511
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Abnormality of peripheral nerves, Abnormal peripheral... ORPHA:168563
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Demyelinating peripheral neuropathy, Abnormal autonomic nervous system physiology, Aganglionic me... OMIM:609136
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Distal sensory impai... OMIM:606070
Mitochondrial Neurogastrointestinal Encephalomyopathy
Paresthesia, Decreased motor nerve conduction velocity, Demyelinating peripheral neuropathy, Decr... ORPHA:298
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Leukodystrophy, Decreased nerve conduction velocity, Optic atrophy ORPHA:309263
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Distal sensory impairment, Optic ne... ORPHA:101076
Sialidosis Type 1
Retinopathy, EEG abnormality, Ataxia, Decreased nerve conduction velocity, Cherry red spot of the... ORPHA:812
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Retinal pigment epithelial mottling, Peripheral... OMIM:618733
Charcot-Marie-Tooth Disease Type 4C
Gait ataxia, Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration se... ORPHA:99949
Peroxisome Biogenesis Disorder 4B
Rod-cone dystrophy, Optic atrophy, Retinal dystrophy, Ataxia, Decreased nerve conduction velocity OMIM:614863
Leber Optic Atrophy
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Ataxia, Optic neu... OMIM:535000
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy OMIM:615419
Charcot-Marie-Tooth Disease Type 1E
Impaired vibration sensation in the lower limbs, Demyelinating peripheral neuropathy, Impaired ta... ORPHA:90658
Non-Specific Early-Onset Epileptic Encephalopathy
Brain atrophy, Optic atrophy, Hypsarrhythmia, Abnormal myelination, Retinal degeneration, Ataxia,... ORPHA:442835
Yuan-Harel-Lupski Syndrome
Gait ataxia, Decreased nerve conduction velocity, Distal sensory impairment, Demyelinating periph... OMIM:616652
Metachromatic Leukodystrophy, Adult Form
Chorea, Orthostatic hypotension due to autonomic dysfunction, Optic atrophy, Progressive gait ata... ORPHA:309271
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, EEG abnormality, Hypsarrhythmia, Decreased nerve conduction velocity, Ce... ORPHA:565624
Lethal Congenital Contracture Syndrome 5
EEG with burst suppression, Retinal hemorrhage, Decreased nerve conduction velocity OMIM:615368
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Distal sensory impairment, Amyotrophic lateral sclerosis ORPHA:600
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:619026
Kanzaki Disease
Cerebral atrophy, Distal sensory impairment, Axonal degeneration, Peripheral axonal neuropathy OMIM:609242
Dentatorubral Pallidoluysian Atrophy
Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Choreoathetosis, Limb ataxia, Ataxia, Dyssynergi... ORPHA:101
Bickerstaff Brainstem Encephalitis
Acute demyelinating polyneuropathy, EEG abnormality, Decreased motor nerve conduction velocity, A... ORPHA:79138
Infantile Krabbe Disease
Optic atrophy, Diffuse cerebral atrophy, Hyperesthesia, Decreased nerve conduction velocity, Prol... ORPHA:206436
Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93474
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity ORPHA:397744
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Dist... ORPHA:477817
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Truncal ataxia, Leukodystrophy, Limb ataxia, CNS hypomyelination, Cerebellar atrophy OMIM:617560
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Decreased nerve conduction velocity ORPHA:329478
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation ORPHA:585
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Truncal ataxia, Choreoathetosis, Optic neuropathy, Cerebellar atrophy, Optic disc ... OMIM:618249
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
EEG with multifocal slow activity, Abnormal myelination, Diffuse cerebral atrophy ORPHA:289266
Neuronopathy, Distal Hereditary Motor, Type X
Decreased compound muscle action potential amplitude OMIM:620080
Chediak-Higashi Syndrome
Ocular albinism, Macular hypoplasia, Ataxia, Decreased nerve conduction velocity, Neurodegeneration OMIM:214500
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Cerebral cortical atrophy, Cerebellar atrophy, Optic a... OMIM:615663
Juvenile Glaucoma
Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo... ORPHA:98977
Cockayne Syndrome A
Patchy demyelination of subcortical white matter, Optic atrophy, Abnormal peripheral myelination,... OMIM:216400
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Leukodystrophy, Ataxia, Dysesthesia, CNS hypomyelination, Cerebral atrophy, Cerebellar atrophy ORPHA:527497
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
EEG abnormality, Decreased motor nerve conduction velocity, Ataxia, Decreased sensory nerve condu... ORPHA:456312
Cockayne Syndrome
Somatic sensory dysfunction, Patchy demyelination of subcortical white matter, Retinal hemorrhage... ORPHA:191
Charcot-Marie-Tooth Disease Type 4B2
Paresthesia, Optic atrophy, Decreased distal sensory nerve action potential, Distal sensory impai... ORPHA:99956
Cockayne Syndrome Type 1
Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory responses, A... ORPHA:90321
Cockayne Syndrome B
Patchy demyelination of subcortical white matter, Optic atrophy, Abnormal peripheral myelination,... OMIM:133540
Cockayne Syndrome Type 3
Retinal hemorrhage, Abnormality of peripheral nerve conduction, Brain atrophy, Demyelinating peri... ORPHA:90324
Renal Coloboma Syndrome
Optic nerve dysplasia, Optic disc coloboma, Retinal coloboma ORPHA:1475
Hereditary Motor And Sensory Neuropathy, Type Iic
Distal sensory impairment, Decreased distal sensory nerve action potential OMIM:606071
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Decreased nerve conduction velocity, Corpus callosum atrophy, Cerebral dysmye... OMIM:261515
Hurler Syndrome
Retinopathy, Abnormal nerve conduction velocity ORPHA:93473
Poliomyelitis
Paresthesia, Abnormal motor nerve conduction velocity ORPHA:2912
Chédiak-Higashi Syndrome
Somatic sensory dysfunction, Brain atrophy, Ataxia, Abnormality of retinal pigmentation, Decrease... ORPHA:167
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
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Ataxia ORPHA:512
Congenital Disorder Of Deglycosylation 1
Chorea, Delayed myelination, Decreased sensory nerve conduction velocity, Dysmetria, Pain insensi... OMIM:615273
Mucopolysaccharidosis Type 2
Retinopathy, Abnormal foveal morphology, Optic atrophy, Retinal degeneration, Abnormality of reti... ORPHA:580
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Abnormal myelination, Ataxia ORPHA:280210
Japanese Encephalitis
EEG abnormality, Decreased motor nerve conduction velocity, EEG with burst suppression, Choreoath... ORPHA:79139
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Chorea, Delayed myelination, Optic atrophy, EEG abnormality, Optic disc pallor, Axonal loss, Abno... ORPHA:404454
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormality of peripheral nerve conduction, Ataxia OMIM:601992
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Somatic sensory dysfunction, Abnormality of... ORPHA:642
Thyrotoxic Periodic Paralysis
Abnormality of peripheral nerve conduction ORPHA:79102
Choreoacanthocytosis
Chorea, Decreased number of peripheral myelinated nerve fibers, Cerebral cortical atrophy, Abnorm... ORPHA:2388
Monosomy 18Q
Abnormal retinal morphology, Abnormal myelination, Choreoathetosis ORPHA:1600
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Paresthesia ORPHA:285
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Truncal ataxia, Abnormal myelination, Dysdiadochokinesis 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.

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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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