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Gene: Erbin MGI:1890169

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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:
Erbb2 interacting protein
Synonyms:
1700028E05Rik,  Erbb2ip,  Erbin

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 Erbin 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 Erbin by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination OMIM:608236
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decreased nerve conduction... OMIM:611228
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction ... OMIM:607734
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Peripheral hypomyel... OMIM:605253
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased distal sensory nerve action potential, Decreased nerve conduction velocity, Decreased m... OMIM:601098
Subacute Inflammatory Demyelinating Polyneuropathy
Demyelinating motor neuropathy, Decreased distal sensory nerve action potential, Decreased sensor... ORPHA:206594
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Null Syndrome
Optic atrophy, Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, CNS hypo... ORPHA:280234
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Mye... OMIM:601382
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Onion bul... OMIM:608323
Chronic Inflammatory Demyelinating Polyneuropathy
Decreased nerve conduction velocity, Abnormal nerve conduction velocity, Motor conduction block, ... ORPHA:2932
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Upper limb postural tremor, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction ORPHA:65684
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology, Decreased motor nerve conduction velocity DECIPHER:29
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, From... OMIM:162500
Parkinsonism With Polyneuropathy
Resting tremor, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action ... OMIM:619279
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decr... OMIM:609311
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination ORPHA:431329
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased sensory nerve conduction velocity, Tremor, Decreased number of periphera... OMIM:609260
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Facial palsy, Decreased motor nerve conduction velocity, Onion bulb formation, Decreased number o... OMIM:118210
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Abnormal myelination ORPHA:401840
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased distal sensory nerve action potential, Onion bulb formation, Decreased number of periph... OMIM:607706
Leukodystrophy, Hypomyelinating, 18
Demyelinating peripheral neuropathy, Dystonia, Decreased nerve conduction velocity, Abnormal moto... OMIM:618404
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Onion bulb formation OMIM:610100
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 4A
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Basal lam... OMIM:214400
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Dystonia, Leukodystrophy, Choreoathetosis OMIM:614932
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Charcot-Marie-Tooth Disease Type 1A
Demyelinating peripheral neuropathy, Decreased sensory nerve conduction velocity, Acute demyelina... ORPHA:101081
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Intention tremor, Choreoathetosis, Optic disc... ORPHA:98890
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Abnormalit... ORPHA:90103
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial diplegia, Onion bulb formation, Decreased numbe... OMIM:618184
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Decreased nerve conduction velo... ORPHA:99939
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Tremor ORPHA:1368
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Abnormal motor nerve conduction velocity OMIM:158580
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased number of peripheral m... OMIM:605588
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude OMIM:605726
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decreased number of large ... OMIM:605285
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Tremor ORPHA:101078
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Hand tremor ORPHA:352675
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118220
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity OMIM:620111
X-Linked Charcot-Marie-Tooth Disease Type 3
Demyelinating peripheral neuropathy, Tremor, Decreased motor nerve conduction velocity ORPHA:101077
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Peripheral dysmyelination ORPHA:101082
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Decreased nerve conduction velocity, Peripheral demyelination OMIM:249900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Decreased nerve conduction velocity, Abnormal peripheral action potential amplitud... ORPHA:457205
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Onion bulb formation, Myelin outfoldings OMIM:615284
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Interictal epil... OMIM:218000
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118200
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Basal lamina onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decrea... OMIM:614895
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Facial palsy, Decreased distal sensory nerve action potential, Onion bulb formation, Decreased mo... OMIM:607684
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Head tremor, Intention tremor, Dystonia, Decreased motor nerve conduction velocity OMIM:613724
Leukodystrophy, Hypomyelinating, 2
Demyelinating motor neuropathy, Optic atrophy, Facial palsy, Intention tremor, Head titubation, D... OMIM:608804
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:600882
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Abnormal nerve conduction velocity ORPHA:101075
Charcot-Marie-Tooth Disease Type 4A
Demyelinating peripheral neuropathy, Motor conduction block, Decreased nerve conduction velocity,... ORPHA:99948
Charcot-Marie-Tooth Disease Type 4D
Postural tremor, Demyelinating peripheral neuropathy, Decreased amplitude of sensory action poten... ORPHA:99950
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers OMIM:607831
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased sensory nerve conduction velocity, Myelin tomacula, Decreased number of peripheral myel... OMIM:145900
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased number of peripheral m... OMIM:604563
Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, CNS ... OMIM:245200
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity OMIM:183050
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity OMIM:616687
Autosomal Recessive Spastic Paraplegia Type 70
Hand tremor, Abnormal myelination ORPHA:401835
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity OMIM:615575
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Charcot-Marie-Tooth Disease Type 4G
Decreased distal sensory nerve action potential, Demyelinating peripheral neuropathy, Decreased m... ORPHA:99953
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Intentio... OMIM:612674
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude OMIM:619112
Combined Oxidative Phosphorylation Defect Type 13
Delayed myelination, Decreased nerve conduction velocity, Choreoathetosis, Limb dystonia ORPHA:319514
Roussy-Lévy Syndrome
Postural tremor, Decreased motor nerve conduction velocity, Acute demyelinating polyneuropathy ORPHA:3115
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
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Hand trem... OMIM:162400
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity OMIM:606595
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity ORPHA:1188
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormality of visual e... OMIM:601455
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Abnormal myelination ORPHA:401830
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity OMIM:600361
Autosomal Recessive Spastic Paraplegia Type 67
Limb tremor, Abnormal myelination ORPHA:401820
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Abnormal sensory nerve conduction velocity ORPHA:276435
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity OMIM:302802
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Tremor OMIM:603472
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers OMIM:607250
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Tremor, Abnormal nerve conduction velocity ORPHA:99014
Spinocerebellar Ataxia, Autosomal Recessive 32
Postural tremor, Torticollis, Abnormal nerve conduction velocity OMIM:619862
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Decreased numbe... OMIM:201300
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Hand tremor, Onion bulb formation, Decreased compound muscle action potential amplitude, Peripher... OMIM:618279
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Decr... ORPHA:98856
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction ... OMIM:302800
Autosomal Dominant Spastic Paraplegia Type 17
Postural tremor, Abnormal motor nerve conduction velocity ORPHA:100998
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Leukodystrophy OMIM:619851
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity OMIM:620068
Wild Type Abeta2M Amyloidosis
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity ORPHA:85446
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
Charcot-Marie-Tooth Disease Type 1F
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Decreased nerve conduction velo... ORPHA:101085
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Tremor OMIM:118300
Spastic Paraplegia 17, Autosomal Dominant
Postural tremor, Decreased motor nerve conduction velocity OMIM:270685
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Decreased nerve conduction velocity, Abnormal lower motor... OMIM:606070
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity OMIM:159550
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity, Intention tremor OMIM:618356
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity OMIM:618138
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Decreased nerve conduction velocity ORPHA:435387
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Tremor ORPHA:397744
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Decreased nerve conduction velocity, Intention tremor, Abnormality of visual evoke... ORPHA:309263
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Axial dys... OMIM:619026
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Dystonia, Peripheral demyelination OMIM:250100
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral hypomyelination, Cerebral dysmyelination, Decreased nerve conduction velocity, Tortico... OMIM:609136
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Degeneration of anterior horn cells, Decreased nerve conduction velocity OMIM:604320
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Peripheral hypomyelination, Abnormality of peripheral nerve conduction, Intention tremor ORPHA:48431
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Dyst... ORPHA:309256
Lethal Ataxia With Deafness And Optic Atrophy
Optic atrophy, Spinal cord posterior columns myelin loss, EEG with focal epileptiform discharges,... ORPHA:1187
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:1933
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Decreased nerve conduction velocity, Tremor ORPHA:329478
Congenital Myopathy 10A, Severe Variant
Facial palsy, Abnormal motor nerve conduction velocity OMIM:614399
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers OMIM:615490
Spinocerebellar Ataxia Type 1
Optic atrophy, Abnormal nerve conduction velocity, Abnormal flash visual evoked potentials, Dysto... ORPHA:98755
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal seventh cranial physiology, Tremor, Abnormal peripheral action potential amplitude ORPHA:90117
Sialidosis Type 1
Decreased nerve conduction velocity, EEG abnormality, Tremor ORPHA:812
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Peripheral demyelination OMIM:604168
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Optic nerve hypoplasia, EEG with foca... OMIM:617302
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, Abnormality of visual evoked ... ORPHA:485421
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased sensory nerve conduction velocity, Hypermyelinated retinal nerve fibers, Decreased numb... OMIM:270550
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude OMIM:619519
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude OMIM:606353
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity ORPHA:2926
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:616688
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Decreased nerve conduction velocity, Intention tremor, Abnormality of visual evoke... ORPHA:309271
Combined Oxidative Phosphorylation Defect Type 39
Decreased nerve conduction velocity, Leg dystonia, Hypsarrhythmia, EEG abnormality, Optic disc pa... ORPHA:565624
Neuropathy, Congenital Hypomyelinating, 3
Facial diplegia, CNS hypomyelination, Dystonia, Decreased motor nerve conduction velocity OMIM:618186
Mitochondrial Neurogastrointestinal Encephalomyopathy
Demyelinating peripheral neuropathy, Decreased sensory nerve conduction velocity, Decreased motor... ORPHA:298
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity OMIM:238970
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity OMIM:614436
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis ORPHA:600
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Decreased motor nerve conduction velocity OMIM:615419
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity OMIM:256600
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral demyelination OMIM:609033
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, EEG with burst suppression OMIM:615368
Spinal Muscular Atrophy, X-Linked 2
Degeneration of anterior horn cells, Facial palsy, Decreased compound muscle action potential amp... OMIM:301830
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Neuromuscular Oculoauditory Syndrome
Peripheral hypomyelination, Decreased nerve conduction velocity, Decreased amplitude of sensory a... OMIM:618733
Yuan-Harel-Lupski Syndrome
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity OMIM:616652
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Decreased nerve conduction velocity, Abnormal CNS myelination OMIM:610651
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Abnormal myelination ORPHA:352682
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93476
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers ORPHA:477817
Smith-Magenis Syndrome
EEG abnormality, Abnormal nerve conduction velocity OMIM:182290
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Hand tremor, Optic disc pallor, Optic neuropathy ORPHA:101076
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Amyotrophic lateral ... OMIM:602433
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Abnormality of visual evoked potentials, Decreased motor nerve conduction velocity... OMIM:601152
Cerebrotendinous Xanthomatosis
Optic atrophy, Decreased nerve conduction velocity, Resting tremor, Abnormal auditory evoked pote... ORPHA:909
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity OMIM:603516
Spinocerebellar Ataxia 1
Optic atrophy, Decreased sensory nerve conduction velocity, Decreased amplitude of sensory action... OMIM:164400
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Optic neuropathy ORPHA:320375
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Decreased sensory 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
Japanese Encephalitis
Pill-rolling tremor, Interictal epileptiform activity, Tremor, Facial palsy, Decreased motor nerv... ORPHA:79139
Friedreich Ataxia
Optic atrophy, Abnormality of visual evoked potentials, Decreased amplitude of sensory action pot... OMIM:229300
Friedreich Ataxia
Optic atrophy, Impaired visually enhanced vestibulo-ocular reflex, Intention tremor, Dystonia, De... ORPHA:95
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Tremor, Abnormal auditory evoked potentials, ... OMIM:133540
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Decreased compound muscle action potential amplitude OMIM:603511
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Tremor, Abnormal auditory evoked potentials, ... OMIM:216400
Charcot-Marie-Tooth Disease Type 1E
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity ORPHA:90658
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Abnormal peripheral myelination ORPHA:168563
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity OMIM:613640
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
EEG with multifocal slow activity, Abnormal myelination ORPHA:289266
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of visual evoked potenti... ORPHA:35069
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Demyelinating peripheral neuropathy, Head tremor, Facial paralysis, Decreased numb... ORPHA:99949
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Hypsarrhythmia, EEG with multifocal slow activity, Tremor, Abnormal myelination ORPHA:442835
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Tremor, Dystonia ORPHA:512
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Tremor OMIM:214500
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Decreased distal sensory nerve action potential, Tremor, Tongue tremor, Abnormality of peripheral... ORPHA:466768
Ataxia, Sensory, 1, Autosomal Dominant
Abnormal vestibulo-ocular reflex, Decreased amplitude of sensory action potentials OMIM:608984
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Cerebral dysmyelination OMIM:261515
Warburg Micro Syndrome 4
Optic atrophy, Decreased motor nerve conduction velocity OMIM:615663
Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93474
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, EEG abnormality, Facial palsy, Decreased sensory nerve... ORPHA:456312
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Decreased nerve conduction velocity OMIM:614863
Wilson Disease
Decreased nerve conduction velocity, Tremor, Limb dystonia, Dystonia, Mixed demyelinating and axo... OMIM:277900
Cockayne Syndrome
Optic atrophy, Cerebral dysmyelination, Decreased nerve conduction velocity, Demyelinating periph... ORPHA:191
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Abnormal sensory nerve conduction velocity ORPHA:88628
Bickerstaff Brainstem Encephalitis
Abnormal cranial nerve morphology, Facial palsy, Abnormality of the autonomic nervous system, CNS... ORPHA:79138
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Tremor, Dystonia, Head tremor OMIM:606002
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11
Decreased compound muscle action potential amplitude OMIM:620528
Chédiak-Higashi Syndrome
Decreased nerve conduction velocity, Tremor ORPHA:167
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Athetosis, Delayed myelination, Action tremor, Delay... OMIM:615273
Pelizaeus-Merzbacher Disease, Connatal Form
Titubation, Abnormal myelination, Cerebral hypomyelination ORPHA:280210
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude OMIM:620080
Cockayne Syndrome Type 1
Optic atrophy, Tremor, Abnormality of peripheral nerve conduction, Absent brainstem auditory resp... ORPHA:90321
Hereditary Sensory And Autonomic Neuropathy Type 1
Decreased amplitude of sensory action potentials, Abnormality of the autonomic nervous system ORPHA:36386
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Mucopolysaccharidosis Type 2
Optic atrophy, Papilledema, Decreased nerve conduction velocity ORPHA:580
Hurler Syndrome
Abnormal nerve conduction velocity ORPHA:93473
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Poliomyelitis
Abnormal motor nerve conduction velocity ORPHA:2912
Cockayne Syndrome Type 3
Demyelinating peripheral neuropathy, Intention tremor, Abnormal myelination, Abnormality of perip... ORPHA:90324
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Athetosis, Lingual dystonia, Delayed myelination, Action tremor, Dystonia, Abnorma... ORPHA:404454
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:285
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Monosomy 18Q
Choreoathetosis, Abnormal myelination ORPHA:1600
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hypsarrhythmia, Dystonia, Abnormal CNS myelination, Abnormal myelination OMIM:620371
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Action tremor, Dystonia, Abnormal myelination ORPHA:309854
Choreoacanthocytosis
Oromandibular dystonia, Resting tremor, Lingual dystonia, Blepharospasm, Limb dystonia, Abnormal ... ORPHA:2388
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of peripheral nerve conduction, Orthostatic hypotension due to autonomic dysfunction,... ORPHA:642
Degcags Syndrome
Abnormal myelination OMIM:619488
Friedreich Ataxia 2
Abnormality of peripheral nerve conduction OMIM:601992
Orofaciodigital Syndrome Type 14
Abnormal myelination 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 Erbin

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 Erbin.

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

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MGI Allele Allele Type Produced
Erbinem1(IMPC)Marc Indel Mice
Erbintm380303(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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