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Gene: Slc1a6 MGI:1096331

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6
Synonyms:
EAAT4

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Slc1a6 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slc1a6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity OMIM:608236
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Parkinsonism With Polyneuropathy
Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity, ... OMIM:619279
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity OMIM:612577
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude OMIM:619112
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Abnormal motor nerve conduction velocity OMIM:158580
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Motor conduction block, Decreased nerve conduction velocity ORPHA:2932
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Decreased compound muscle action potential amplitude, Compound muscle action potential amplitude ... OMIM:616040
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity OMIM:605726
Charcot-Marie-Tooth Disease, Type 4J
Decreased nerve conduction velocity, Decreased motor nerve conduction velocity OMIM:611228
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity OMIM:620111
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity OMIM:608323
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials OMIM:608673
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased nerve conduction velocity, Decreased distal sensory nerve action potential, Decreased m... OMIM:601098
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity OMIM:162500
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction ORPHA:65684
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity OMIM:605253
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity OMIM:183050
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity ORPHA:101075
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno... ORPHA:206594
Null Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction, Decreased nerve conduction velocity ORPHA:280234
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity DECIPHER:29
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Abnormalit... ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity OMIM:616687
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity ORPHA:1368
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity OMIM:615575
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity OMIM:615376
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Decreased nerve conduction velocity, Abnormal peripheral action potential amplitud... ORPHA:457205
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity ORPHA:99944
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity OMIM:610100
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity OMIM:608895
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity OMIM:613287
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity ORPHA:101078
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity ORPHA:352675
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased distal sensory nerve action potential, Decreased motor nerve conduction velocity OMIM:607706
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity ORPHA:2926
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity ORPHA:276435
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Facial palsy, Decreased motor nerve conduction velocity OMIM:118210
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity OMIM:618404
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity ORPHA:1188
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity OMIM:606595
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity OMIM:302802
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velo... OMIM:609260
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity OMIM:619862
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Decreased nerve conduction velocity, Abnormal motor evoked potentials ORPHA:99939
Charcot-Marie-Tooth Disease Type 1A
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity ORPHA:101081
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity OMIM:600361
Autosomal Dominant Spastic Paraplegia Type 17
Abnormal motor nerve conduction velocity ORPHA:100998
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial diplegia OMIM:618184
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased distal sensory nerve action potential, Facial palsy, Decreased motor nerve conduction v... OMIM:607684
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity ORPHA:101082
Congenital Myopathy 10A, Severe Variant
Abnormal motor nerve conduction velocity, Facial palsy OMIM:614399
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude OMIM:619519
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity OMIM:609311
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude OMIM:600882
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity OMIM:614932
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity OMIM:605588
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity OMIM:605285
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Decreased distal sensory nerve action potential OMIM:618400
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials ORPHA:85446
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity OMIM:615284
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity OMIM:620068
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Facial diplegia, ... OMIM:218000
Charcot-Marie-Tooth Disease Type 4A
Decreased nerve conduction velocity, Motor conduction block ORPHA:99948
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity OMIM:607831
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity OMIM:607734
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity OMIM:249900
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Krabbe Disease
Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Abnormal flash visual evoked... OMIM:245200
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Optic atrophy, Abnormal flash visual evoked potentials, Abnor... ORPHA:98755
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity ORPHA:101077
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93476
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Abnormal seventh cranial physiology ORPHA:90117
Neuronal Intranuclear Inclusion Disease
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity OMIM:603472
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity OMIM:159550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity OMIM:618138
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity OMIM:180800
Charcot-Marie-Tooth Disease Type 4G
Decreased distal sensory nerve action potential, Decreased motor nerve conduction velocity, Motor... ORPHA:99953
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials ORPHA:99950
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity OMIM:613724
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Optic disc p... ORPHA:485421
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:1933
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, EEG abnormality OMIM:182290
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:201300
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Decreased nerve conduction velocity ORPHA:435387
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormality of visual e... OMIM:601455
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity OMIM:214400
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction ORPHA:48431
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Decreased compound muscle action potential amplitude OMIM:603511
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity OMIM:607250
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity ORPHA:3115
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity ORPHA:319514
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity OMIM:614436
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Optic atrophy OMIM:612674
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity OMIM:270685
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity OMIM:118300
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:616688
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity OMIM:162400
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity OMIM:618356
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity OMIM:118220
Lethal Congenital Contracture Syndrome 5
EEG with burst suppression, Decreased nerve conduction velocity OMIM:615368
Primary Lateral Sclerosis, Juvenile
Decreased compound muscle action potential amplitude OMIM:606353
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity OMIM:604563
Spinal Muscular Atrophy, X-Linked 2
Facial palsy, Decreased compound muscle action potential amplitude OMIM:301830
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity OMIM:619026
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity OMIM:619851
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials OMIM:256600
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity ORPHA:397744
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93474
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Decreased motor nerve conduction velocity OMIM:615419
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity OMIM:238970
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity OMIM:118200
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity OMIM:145900
Sialidosis Type 1
Decreased nerve conduction velocity, EEG abnormality ORPHA:812
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Facial diplegia ORPHA:329478
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Decreased compound muscle action potential amplitude OMIM:618279
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials ORPHA:98856
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity OMIM:604320
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Hypsarrhythmia, EEG abnormality, Decreased nerve conduction velocity ORPHA:565624
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity OMIM:614895
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of peripheral nerve conductio... ORPHA:35069
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Facial palsy, Decreased motor nerve conduction velocity OMIM:608804
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity OMIM:616192
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:256840
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic disc pallor, Decreased motor nerve conduction velocity, Optic atrophy, Abnormality of visua... OMIM:601152
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11
Decreased compound muscle action potential amplitude OMIM:620528
Optic Atrophy 11
Optic atrophy, EEG with focal sharp waves, Facial diplegia, Decreased sensory nerve conduction ve... OMIM:617302
Friedreich Ataxia
Optic atrophy, Decreased sensory nerve conduction velocity, Decreased amplitude of sensory action... OMIM:229300
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity OMIM:615490
Lethal Ataxia With Deafness And Optic Atrophy
Optic atrophy, Decreased motor nerve conduction velocity, EEG with focal epileptiform discharges,... ORPHA:1187
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity OMIM:603516
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206436
Spinocerebellar Ataxia 1
Optic atrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action p... OMIM:164400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude OMIM:620080
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity OMIM:613640
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction ORPHA:168563
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials ORPHA:309256
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity OMIM:302800
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity ORPHA:298
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Optic atrophy OMIM:250100
Amyotrophic Lateral Sclerosis 21
Decreased nerve conduction velocity OMIM:606070
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials ORPHA:309263
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal sensory nerve conduction velocity ORPHA:88628
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity OMIM:604168
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia ORPHA:101085
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity OMIM:609033
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618733
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity ORPHA:600
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Facial diplegia OMIM:618186
Yuan-Harel-Lupski Syndrome
Decreased nerve conduction velocity OMIM:616652
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Hereditary Sensory And Autonomic Neuropathy Type 1
Abnormality of the autonomic nervous system, Decreased amplitude of sensory action potentials ORPHA:36386
X-Linked Charcot-Marie-Tooth Disease Type 2
Optic disc pallor, Decreased motor nerve conduction velocity, Optic neuropathy ORPHA:101076
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Optic atrophy OMIM:610651
Metachromatic Leukodystrophy, Adult Form
Orthostatic hypotension due to autonomic dysfunction, Decreased nerve conduction velocity, Optic ... ORPHA:309271
Ataxia, Sensory, 1, Autosomal Dominant
Decreased amplitude of sensory action potentials OMIM:608984
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity ORPHA:477817
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity OMIM:270550
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Decreased nerve conduction velocity, Aganglionic megacolon, ... OMIM:609136
Hurler Syndrome
Abnormal nerve conduction velocity ORPHA:93473
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy OMIM:614863
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Abnormality of peripheral nerve conduction ORPHA:90321
Warburg Micro Syndrome 4
Optic atrophy, Decreased motor nerve conduction velocity OMIM:615663
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased sensory nerve conduction velocity, Facial palsy, Decreased motor nerve conduction veloc... ORPHA:456312
Amyotrophic Lateral Sclerosis 4, Juvenile
Decreased compound muscle action potential amplitude OMIM:602433
Poliomyelitis
Abnormal motor nerve conduction velocity ORPHA:2912
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Abnormal motor nerve conduction veloci... ORPHA:466768
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Decreased sensory nerve conduction velocity, Optic neuropathy ORPHA:320375
Chediak-Higashi Syndrome
Decreased nerve conduction velocity OMIM:214500
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology OMIM:614575
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity OMIM:261515
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity ORPHA:90658
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:512
Cockayne Syndrome B
Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Optic atrophy, Abnormal... OMIM:133540
Cockayne Syndrome A
Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Optic atrophy, Abnormal... OMIM:216400
Japanese Encephalitis
Decreased motor nerve conduction velocity, EEG with burst suppression, EEG abnormality, Intericta... ORPHA:79139
Friedreich Ataxia
Optic atrophy, Decreased motor nerve conduction velocity ORPHA:95
Chédiak-Higashi Syndrome
Decreased nerve conduction velocity ORPHA:167
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential OMIM:606071
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autonomic nervous... ORPHA:79138
Cockayne Syndrome
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy ORPHA:191
Mucopolysaccharidosis Type 2
Decreased nerve conduction velocity, Papilledema, Optic atrophy ORPHA:580
Cockayne Syndrome Type 3
Optic disc pallor, Abnormality of peripheral nerve conduction ORPHA:90324
Wilson Disease
Decreased nerve conduction velocity OMIM:277900
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Decreased motor nerve conduction velocity, Facial paralysis ORPHA:99949
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity OMIM:606002
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Decreased distal sensory nerve action potential ORPHA:99956
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity OMIM:615273
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:285
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Abnormality of the autonomic nervous system... ORPHA:642
Friedreich Ataxia 2
Abnormality of peripheral nerve conduction OMIM:601992
Choreoacanthocytosis
Decreased amplitude of sensory action potentials, Abnormal autonomic nervous system physiology ORPHA:2388

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 Slc1a6

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 Slc1a6.

No publications found that use IMPC mice or data for Slc1a6.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Slc1a6tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc1a6tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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