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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:
Erbb2ip,  1700028E05Rik,  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, Onion bulb formation, Decreased nerve conduction veloc... OMIM:611228
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607734
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme... ORPHA:206594
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno... OMIM:605253
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Segme... OMIM:601098
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Chronic Inflammatory Demyelinating Polyneuropathy
Segmental peripheral demyelination/remyelination, Decreased nerve conduction velocity, Motor cond... ORPHA:2932
Null Syndrome
Decreased nerve conduction velocity, Optic atrophy, CNS hypomyelination, Abnormality of periphera... ORPHA:280234
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:180800
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction ORPHA:65684
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Segmental peripheral demyelination/remye... OMIM:162500
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Decreased compound muscle action poten... OMIM:619279
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609311
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination ORPHA:431329
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609260
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Abnormal myelination ORPHA:401840
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607706
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity, Demyelinating peri... OMIM:618404
Charcot-Marie-Tooth Disease Type 1A
Acute demyelinating polyneuropathy, Decreased motor nerve conduction velocity, Decreased sensory ... ORPHA:101081
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... 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 number of large peripheral myelinated nerve fibers, Decreased amplitude of sensory acti... OMIM:608673
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:214400
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Decreased nerve conduction velocity, Leukodystrophy, Dystonia OMIM:614932
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:608323
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Choreoathetosis, Intention... ORPHA:98890
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:618184
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Demyelinating motor neuropathy, Decreased nerve conduction velocity, Abnormal motor evoked potent... ORPHA:99939
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Cataract-Ataxia-Deafness Syndrome
Tremor, Decreased nerve conduction velocity ORPHA:1368
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 number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... 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 number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:605285
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Decreased nerve conduction velocity ORPHA:101078
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Hand tremor ORPHA:352675
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
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
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
Decreased nerve conduction velocity, CNS demyelination, Peripheral demyelination OMIM:249900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Myelin outfoldings, Onion bulb formation OMIM:615284
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Dystonia, Abnormal periphera... ORPHA:457205
X-Linked Charcot-Marie-Tooth Disease Type 3
Tremor, Decreased motor nerve conduction velocity, Demyelinating peripheral neuropathy ORPHA:101077
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
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:614895
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Tremor, Decreased nerve conduction velocity, Limb trem... OMIM:218000
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Torticollis, Head tremor, Dystonia, Intention tremor OMIM:613724
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Onion... OMIM:607684
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:90103
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial palsy, Demyelinating motor neuropathy, Head tit... OMIM:608804
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Abnormal nerve conduction velocity ORPHA:101075
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:600882
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Truncal titubation, CNS hypomyelination, Leukodystroph... OMIM:610532
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Postural tremor, Demyelinating peripheral neuropathy, ... ORPHA:99950
Charcot-Marie-Tooth Disease Type 4A
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:99948
Autosomal Recessive Spastic Paraplegia Type 70
Hand tremor, Abnormal myelination ORPHA:401835
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity OMIM:607831
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:604563
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:145900
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity OMIM:616687
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity OMIM:183050
Krabbe Disease
Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, CNS demyelination, Periphera... OMIM:245200
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity OMIM:615575
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Motor... ORPHA:99953
Roussy-Lévy Syndrome
Acute demyelinating polyneuropathy, Decreased motor nerve conduction velocity, Postural tremor ORPHA:3115
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude OMIM:619112
Combined Oxidative Phosphorylation Defect Type 13
Choreoathetosis, Delayed myelination, Decreased nerve conduction velocity, Limb dystonia ORPHA:319514
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Optic atrophy, Demyelinating peripheral neuropathy, Intentio... OMIM:612674
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, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
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 number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:162400
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity OMIM:606595
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity ORPHA:1188
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
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity OMIM:302802
Neuronal Intranuclear Inclusion Disease
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:603472
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Abnormal sensory nerve conduction velocity ORPHA:276435
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Optic atrophy, Abnormal nerve conduction velocity ORPHA:99014
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity OMIM:607250
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Torticollis, Postural tremor OMIM:619862
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Onion bulb formation, Abnormal auditory evoked potentials, S... OMIM:601455
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction veloci... OMIM:201300
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Decreased nerve conduction velocity, Decreased number of small peripheral myelinated nerve fibers... ORPHA:101097
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Decreased compound muscle action potential amplitude, Onion bulb formation, Peripheral demyelinat... OMIM:618279
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:302800
Autosomal Dominant Spastic Paraplegia Type 17
Postural tremor, Abnormal motor nerve conduction velocity ORPHA:100998
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... ORPHA:98856
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 nerve conduction velocity, Decreased amplitude of sensory action potentials ORPHA:85446
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Demyelinating sensory neuropathy, Optic nerve hypoplasia, De... ORPHA:101085
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Tremor, Decreased nerve conduction velocity, EEG ... ORPHA:206443
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
Tremor, Decreased motor nerve conduction velocity OMIM:118300
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Postural tremor OMIM:270685
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... OMIM:606070
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity OMIM:618138
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity, Intention tremor OMIM:618356
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity OMIM:159550
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Decreased nerve conduction velocity ORPHA:435387
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Axial dystonia, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction vel... OMIM:619026
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Dystonia OMIM:250100
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Cerebral dysmyelination,... OMIM:609136
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Degeneration of anterior horn cells, Decreased nerve conduction velocity OMIM:604320
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve ORPHA:90117
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Decreased nerve conduction velocity ORPHA:397744
Spinocerebellar Ataxia Type 1
Postural tremor, Optic atrophy, Dystonia, Abnormal nerve conduction velocity, Abnormality of soma... ORPHA:98755
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Severe demyelination of the white matter, Optic atroph... ORPHA:1187
Congenital Myopathy 10A, Severe Variant
Facial palsy, Abnormal motor nerve conduction velocity OMIM:614399
Sialidosis Type 1
Tremor, EEG abnormality, Decreased nerve conduction velocity ORPHA:812
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Peripheral demyelination OMIM:604168
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Leukodystrophy, Dystonia, Intention tremor ORPHA:309263
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity OMIM:615490
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Optic Atrophy 11
Delayed CNS myelination, Optic nerve hypoplasia, EEG with focal sharp waves, Optic atrophy, Athet... OMIM:617302
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... 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
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:616688
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity ORPHA:2926
Adult-Onset Distal Myopathy Due To Vcp Mutation
Tremor, Facial diplegia, Decreased nerve conduction velocity ORPHA:329478
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Leukodystrophy, Dystonia ORPHA:309256
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Decreased nerve conduction velocity, Leg dystonia, Hypsarrhythmia, EEG abnorma... ORPHA:565624
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity ORPHA:1933
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Facial diplegia, Dystonia, CNS hypomyelination OMIM:618186
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Optic atrophy OMIM:256600
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... ORPHA:298
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity OMIM:614436
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... ORPHA:485421
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity OMIM:238970
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy OMIM:615419
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis ORPHA:600
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Leukodystrophy, Dystonia, Orthostatic hypoten... ORPHA:309271
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Intention tremor ORPHA:48431
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Optic atrophy, Peripheral demyelination OMIM:609033
Spinal Muscular Atrophy, X-Linked 2
Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial... OMIM:301830
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, EEG with burst suppression OMIM:615368
Yuan-Harel-Lupski Syndrome
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy OMIM:616652
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Peripheral hypomyelination, Decreased amplitude of sensory a... OMIM:618733
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Abnormal CNS myelination, Optic atrophy OMIM:610651
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Abnormal myelination ORPHA:352682
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93476
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity ORPHA:477817
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity OMIM:603516
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Hand tremor ORPHA:101076
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Decreased sensory ne... OMIM:164400
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Cerebrotendinous Xanthomatosis
Resting tremor, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreas... ORPHA:909
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:256840
Autosomal Recessive Spastic Paraplegia Type 55
Decreased sensory nerve conduction velocity, Optic atrophy, Onion bulb formation, Optic neuropathy ORPHA:320375
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 Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy OMIM:601152
Japanese Encephalitis
Decreased motor nerve conduction velocity, Facial palsy, Tremor, Paucity of anterior horn motor n... ORPHA:79139
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Decreased compound muscle action potential amplitude, Facial palsy OMIM:603511
Friedreich Ataxia
Decreased motor nerve conduction velocity, Optic atrophy, Dystonia, Impaired visually enhanced ve... ORPHA:95
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormality of peripheral nerve conduction ORPHA:168563
Wilson Disease
Limb dystonia, Tremor, Decreased nerve conduction velocity, Hand tremor, Dystonia, Mixed demyelin... OMIM:277900
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity OMIM:613640
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy ORPHA:90658
Cockayne Syndrome B
Abnormal peripheral myelination, Abnormal auditory evoked potentials, Tremor, Decreased nerve con... OMIM:133540
Cockayne Syndrome A
Abnormal peripheral myelination, Abnormal auditory evoked potentials, Tremor, Decreased nerve con... OMIM:216400
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Optic atrophy, EEG with multifocal slow activity, Hypsarrhythmia, Abnormal myelination ORPHA:442835
Charcot-Marie-Tooth Disease Type 4C
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... ORPHA:99949
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
EEG with multifocal slow activity, Abnormal myelination ORPHA:289266
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Decreased distal sensory nerve action ... ORPHA:466768
Chediak-Higashi Syndrome
Tremor, Decreased nerve conduction velocity OMIM:214500
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Optic atrophy, Decreased amplitude of sensory action... OMIM:229300
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of peripheral nerve cond... ORPHA:35069
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy OMIM:615663
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Cerebral dysmyelination OMIM:261515
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, EEG abnormality, Decreased sensory nerve conduction ve... ORPHA:456312
Metachromatic Leukodystrophy
Tremor, Decreased nerve conduction velocity, Dystonia ORPHA:512
Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93474
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy OMIM:614863
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Abnormal sensory nerve conduction velocity ORPHA:88628
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Facial palsy, Acute demyelinating polyneuropathy, EEG ... ORPHA:79138
Cockayne Syndrome
Optic disc pallor, Cerebral dysmyelination, Action tremor, Decreased nerve conduction velocity, O... ORPHA:191
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Decreased motor nerve conduction velocity, Head tremor, Dystonia OMIM:606002
Chédiak-Higashi Syndrome
Tremor, Decreased nerve conduction velocity ORPHA:167
Congenital Disorder Of Deglycosylation 1
Delayed CNS myelination, Delayed myelination, Athetosis, Decreased sensory nerve conduction veloc... OMIM:615273
Pelizaeus-Merzbacher Disease, Connatal Form
Titubation, Cerebral hypomyelination, Abnormal myelination ORPHA:280210
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude OMIM:620080
Cockayne Syndrome Type 1
Tremor, Absent brainstem auditory responses, Optic atrophy, Abnormality of peripheral nerve condu... ORPHA:90321
Hereditary Sensory And Autonomic Neuropathy Type 1
Abnormality of the autonomic nervous system, Decreased amplitude of sensory action potentials ORPHA:36386
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Mucopolysaccharidosis Type 2
Decreased nerve conduction velocity, Papilledema, Optic atrophy ORPHA:580
Hurler Syndrome
Abnormal nerve conduction velocity ORPHA:93473
Poliomyelitis
Abnormal motor nerve conduction velocity ORPHA:2912
Cockayne Syndrome Type 3
Optic disc pallor, Demyelinating peripheral neuropathy, Abnormal myelination, Abnormality of peri... ORPHA:90324
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic disc pallor, Dystonia, Delayed myelination, Optic atrophy, Athetosis, EEG abnormality, Abno... ORPHA:404454
Thyrotoxic Periodic Paralysis
Tremor, Abnormality of peripheral nerve conduction ORPHA:79102
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity ORPHA:285
Monosomy 18Q
Choreoathetosis, Abnormal myelination ORPHA:1600
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Action tremor, Abnormal myelination ORPHA:309854
Choreoacanthocytosis
Decreased number of peripheral myelinated nerve fibers, Resting tremor, Head titubation, Blepharo... ORPHA:2388
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of the autonomic nervous system, Abnormality of peripheral nerve conduction, Orthosta... ORPHA:642
Friedreich Ataxia 2
Abnormality of peripheral nerve conduction OMIM:601992
Degcags Syndrome
Abnormal myelination OMIM:619488
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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