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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, Peripheral demyelination, Onion bulb formation OMIM:608236
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Charcot-Marie-Tooth Disease, Type 4J
Decreased nerve conduction velocity, Decreased motor nerve conduction velocity, Onion bulb format... OMIM:611228
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Tremor, Decreased number of peripheral myelinated nerv... OMIM:607734
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Onion bulb formatio... OMIM:605253
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Decreased distal ... OMIM:601098
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno... ORPHA:206594
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Null Syndrome
Optic atrophy, CNS hypomyelination, Decreased nerve conduction velocity, Peripheral demyelination... ORPHA:280234
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ... OMIM:601382
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Onion bul... OMIM:608323
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Decreased nerve conduction velocity, Peripheral demyelination... ORPHA:2932
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Decreased motor nerve conduction velocity, Action tremor, Decreased n... OMIM:180800
Monomelic Amyotrophy
Tremor, Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells 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
Froment sign, Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction ... OMIM:162500
Parkinsonism With Polyneuropathy
Resting tremor, Decreased compound muscle action potential amplitude, Decreased motor nerve condu... 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, Abnormal myelination, Abnormality of peripheral nerve conduction ORPHA:431329
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased motor nerve conduction velocity, Tremor, Decreased number of peripheral ... 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
Abnormal myelination, Hand tremor ORPHA:401840
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased distal sensory nerve action potential, Decreased motor nerve conduction velocity, Onion... OMIM:607706
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Dystonia, Abnormal motor nerve conduction velocity, Demyelin... OMIM:618404
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 motor nerve conduction velocity, Basal lamina onion bulb formation, CNS hypomyelination... OMIM:214400
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Dystonia, Choreoathetosis, Leukodystrophy OMIM:614932
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Charcot-Marie-Tooth Disease Type 1A
Acute demyelinating polyneuropathy, Decreased sensory nerve conduction velocity, Decreased motor ... ORPHA:101081
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Optic disc pallor, Intention tremor, Choreoat... 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 number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... 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, Decreased nerve conduction velocity, Demyelinating sensory neurop... 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
Abnormal motor nerve conduction velocity, Tremor OMIM:158580
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 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
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
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 motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity OMIM:620111
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
X-Linked Charcot-Marie-Tooth Disease Type 3
Tremor, Decreased motor nerve conduction velocity, Demyelinating peripheral neuropathy ORPHA:101077
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Decreased nerve conduction velocity ORPHA:101082
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, CNS 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 motor nerve conduction velocity, Decreased nerve conduction velocity, Facial diplegia, ... OMIM:218000
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Peripheral demyelination, Decreased number of peripher... OMIM:118200
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral demyelin... OMIM:614895
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased distal sensory nerve action potential, Facial palsy, Decreased motor nerve conduction v... OMIM:607684
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Head tremor, Torticollis, Dystonia, Intention tremor OMIM:613724
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Decreased motor nerve conduction velocity, Leukodystrophy, Intention tremor, Cereb... OMIM:608804
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:600882
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Tremor ORPHA:101075
Charcot-Marie-Tooth Disease Type 4A
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:99948
Charcot-Marie-Tooth Disease Type 4D
Postural tremor, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action... 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 motor nerve conduction velocity, Peripheral demyelination, Myelin tomacula, Decreased n... OMIM:145900
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, Onio... OMIM:604563
Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination, ... 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
Abnormal myelination, Hand tremor 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
Decreased compound muscle action potential amplitude, Compound muscle action potential amplitude ... OMIM:616040
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral demyelination, Decreased distal sensory ner... ORPHA:99953
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Optic atrophy, Intention tremor, Demyelinating peripheral ne... OMIM:612674
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude OMIM:619112
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity, Limb dystonia, Delayed myelination, Choreoathetosis ORPHA:319514
Roussy-Lévy Syndrome
Acute demyelinating polyneuropathy, Postural tremor, Decreased motor nerve conduction velocity 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 number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction ... 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, Decreased motor nerve conduction velo... OMIM:601596
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity ORPHA:1188
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Segmental peripheral de... OMIM:601455
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Hand tremor ORPHA:401830
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity OMIM:600361
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination, Limb tremor ORPHA:401820
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity, Tremor ORPHA:276435
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity OMIM:302802
Neuronal Intranuclear Inclusion Disease
Decreased sensory nerve conduction velocity, Decreased motor 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
Abnormal nerve conduction velocity, Optic atrophy, Tremor ORPHA:99014
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Postural tremor, Torticollis OMIM:619862
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory 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
Peripheral demyelination, Decreased compound muscle action potential amplitude, Onion bulb format... 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
Decreased motor nerve conduction velocity, Hand tremor, Tremor, Decreased number of peripheral my... 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 nerve conduction velocity, Decreased amplitude of sensory action potentials ORPHA:85446
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Mixed demyelinating and axonal polyneuropathy, Hand tremor, Dec... 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 lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... 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, Leukodystrophy, Decreased nerve conduction velocity, Dystonia, Intention tremor, A... ORPHA:309263
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Axial dys... OMIM:619026
Metachromatic Leukodystrophy
Dystonia, Decreased nerve conduction velocity, Peripheral demyelination, Optic atrophy OMIM:250100
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Decreased nerve conduction velocity, Peripheral demyelinatio... OMIM:609136
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intention tremor, Abnormality of peripheral nerve conduction, Peripheral hypomyelination ORPHA:48431
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Degeneration of anterior horn cells OMIM:604320
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Leukodystrophy, Decreased nerve conduction velocity, Dystonia, Abnormality of visu... ORPHA:309256
Lethal Ataxia With Deafness And Optic Atrophy
Optic atrophy, Decreased motor nerve conduction velocity, Spinal cord posterior columns myelin lo... ORPHA:1187
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:1933
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Facial diplegia, Tremor ORPHA:329478
Congenital Myopathy 10A, Severe Variant
Abnormal motor nerve conduction velocity, Facial palsy 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
Abnormal nerve conduction velocity, Optic atrophy, Abnormality of somatosensory evoked potentials... ORPHA:98755
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Abnormal peripheral action potential amplitude, Abnormal seventh cranial physiology 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
Peripheral demyelination, Decreased motor nerve conduction velocity, Peripheral hypomyelination OMIM:604168
Optic Atrophy 11
Optic atrophy, EEG with focal sharp waves, Facial diplegia, Delayed CNS myelination, Decreased se... OMIM:617302
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Optic disc p... ORPHA:485421
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Hypermyelinated retinal nerve fibers, Decreased number... OMIM:270550
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude OMIM:619519
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity ORPHA:2926
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
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Leukodystrophy, Decreased nerve conduction velocity, Orthostatic hypotension due t... 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
CNS hypomyelination, Dystonia, Decreased motor nerve conduction velocity, Facial diplegia OMIM:618186
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction ... 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
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials 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
EEG with burst suppression, Decreased nerve conduction velocity OMIM:615368
Spinal Muscular Atrophy, X-Linked 2
Facial palsy, Decreased compound muscle action potential amplitude, Degeneration of anterior horn... OMIM:301830
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Peripheral... OMIM:618733
Yuan-Harel-Lupski Syndrome
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy OMIM:616652
Xeroderma Pigmentosum, Complementation Group B
Abnormal CNS myelination, Decreased nerve conduction velocity, Optic atrophy OMIM:610651
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, 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
Abnormal nerve conduction velocity, EEG abnormality OMIM:182290
X-Linked Charcot-Marie-Tooth Disease Type 2
Optic disc pallor, Decreased motor nerve conduction velocity, Optic neuropathy, Hand tremor ORPHA:101076
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Decreased compound m... OMIM:602433
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
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Resting tre... ORPHA:909
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity OMIM:603516
Spinocerebellar Ataxia 1
Optic atrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action p... OMIM:164400
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Decreased sensory nerve conduction velocity, Optic neuropathy, Onion bulb formation 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 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
Japanese Encephalitis
Decreased motor nerve conduction velocity, Pill-rolling tremor, EEG with burst suppression, Tremo... ORPHA:79139
Friedreich Ataxia
Optic atrophy, Decreased sensory nerve conduction velocity, Decreased amplitude of sensory action... OMIM:229300
Friedreich Ataxia
Optic atrophy, Decreased motor nerve conduction velocity, Intention tremor, Dystonia, Impaired vi... ORPHA:95
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Peripheral dysmyelination, Decreased nerve co... OMIM:133540
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Decreased compound muscle action potential amplitude OMIM:603511
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Peripheral dysmyelination, Decreased nerve co... OMIM:216400
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy ORPHA:90658
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormality of peripheral nerve conduction 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
Abnormal myelination, EEG with multifocal slow activity ORPHA:289266
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal autonomic nervous system phys... ORPHA:35069
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Decreased motor nerve conduction velocity, Facial paralysis, Head tremor, Decrease... ORPHA:99949
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Tremor, Hypsarrhythmia, EEG with multifocal slow activity, Abnormal myelination ORPHA:442835
Metachromatic Leukodystrophy
Tremor, Decreased nerve conduction velocity, Dystonia, Abnormality of visual evoked potentials ORPHA:512
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Tremor OMIM:214500
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue tremor, Mixed demyelinating and axonal polyneuropathy, Abnormal motor nerve conduction vel... 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 sensory nerve conduction velocity, Facial palsy, Decreased motor nerve conduction veloc... ORPHA:456312
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy OMIM:614863
Wilson Disease
Mixed demyelinating and axonal polyneuropathy, Hand tremor, Decreased nerve conduction velocity, ... OMIM:277900
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Abnormal sensory nerve conduction velocity ORPHA:88628
Cockayne Syndrome
Optic atrophy, Decreased nerve conduction velocity, Action tremor, Demyelinating peripheral neuro... ORPHA:191
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autonomic nervous... ORPHA:79138
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Dystonia, Head tremor, Decreased motor nerve conduction velocity, 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
Action tremor, Delayed CNS myelination, Decreased sensory nerve conduction velocity, Athetosis, D... OMIM:615273
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Abnormal myelination, Titubation ORPHA:280210
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude OMIM:620080
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Abnormality of peripheral nerve conduction, T... 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
Mucopolysaccharidosis Type 2
Decreased nerve conduction velocity, Papilledema, Optic atrophy 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
Abnormality of peripheral nerve conduction, Demyelinating peripheral neuropathy, Optic disc pallo... ORPHA:90324
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Athetosis, Action tremor, EEG abnormality, Lingual dystonia, Optic disc pallor, Dy... 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
Abnormal myelination, Choreoathetosis ORPHA:1600
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Abnormal CNS myelination, Dystonia, Abnormal myelination, Hypsarrhythmia OMIM:620371
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Abnormal myelination, Action tremor ORPHA:309854
Choreoacanthocytosis
Blepharospasm, Decreased amplitude of sensory action potentials, Resting tremor, Laryngeal dyston... ORPHA:2388
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Abnormality of the autonomic nervous system... 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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