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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,  Erbin,  Erbb2ip

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
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Axonal loss, Peripheral hypomyelination, Onion bulb fo... OMIM:611228
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:607734
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segmental peripheral demye... OMIM:601098
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... DECIPHER:29
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Action tremor, Decreased number of peripheral myelinat... OMIM:180800
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Abno... OMIM:605253
Neuropathy, Hereditary Motor And Sensory, Russe Type
Peripheral hypomyelination, Decreased motor nerve conduction velocity, Axonal regeneration, Decre... OMIM:605285
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Motor conduction block, Abnormal nerve conduction velocity, Decreased n... ORPHA:2932
Null Syndrome
Peripheral demyelination, Demyelinating peripheral neuropathy, Decreased nerve conduction velocit... ORPHA:280234
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Tremor, Degeneration of anterior horn cells ORPHA:65684
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination OMIM:162500
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Irregular myelin ... OMIM:601382
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Decreased number ... OMIM:608673
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, P... OMIM:609260
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Abnormal myelination, Optic atrophy ORPHA:431329
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:605588
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:610100
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decr... OMIM:609311
Parkinsonism With Polyneuropathy
Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity, ... OMIM:619279
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination, Hand tremor ORPHA:401840
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Demyelina... ORPHA:101081
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:607706
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Demyelinating sensory neuropathy, Abnormal motor evoked potentials, Peripheral axonal neuropathy,... ORPHA:99939
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
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 4F
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:614895
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Onion bulb formation, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:601455
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Axonal degeneration/regener... OMIM:600882
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Abnormality of peripheral nerve conduction, Decreased amplitude of sensory action potentials, Dec... ORPHA:90103
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... OMIM:601596
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased nerve conduction velocity ORPHA:101082
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Cataract-Ataxia-Deafness Syndrome
Tremor, Decreased nerve conduction velocity ORPHA:1368
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Peripheral demyelination, Decreased nerve conduction velocity OMIM:249900
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor, Intention tremor ORPHA:98890
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of peripheral my... OMIM:607831
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Decreased motor nerve conduction velocity OMIM:614228
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Tremor, Peripheral axonal neuropathy, Demyelinating pe... ORPHA:101077
X-Linked Charcot-Marie-Tooth Disease Type 6
Hand tremor, Decreased nerve conduction velocity ORPHA:352675
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Decreased nerve conduction velocity ORPHA:101078
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, Abnormal motor nerve co... OMIM:618404
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Decreased motor nerve conduction velocity, Head titubation, Sensory axonal neurop... OMIM:608804
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Decreased nerve conduction velocity OMIM:615284
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900
Motor Neuropathy, Peripheral, With Dysautonomia
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Orthostatic hy... OMIM:252320
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Sensory axonal neuropathy, EEG abnormality, Abnormal periphe... ORPHA:457205
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:613287
Charcot-Marie-Tooth Disease Type 4D
Postural tremor, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action... ORPHA:99950
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Motor conduction block, Demyelinating peripheral neuro... ORPHA:99953
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... OMIM:604563
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Tremor ORPHA:101075
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
Peripheral axonal neuropathy, Decreased nerve conduction velocity OMIM:608895
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial diplegia OMIM:618184
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Decreased motor nerve conduction velocity, Facial palsy, CNS hypomyelination, Cerebral hypomyelin... OMIM:601170
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Decreased nerve conduction velocity OMIM:614932
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination, Hand tremor ORPHA:401835
Krabbe Disease
Decreased nerve conduction velocity, EEG abnormality, Optic atrophy, Peripheral demyelination, CN... OMIM:245200
Developmental And Epileptic Encephalopathy 54
EEG abnormality, Delayed myelination OMIM:617391
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased sensory nerve conduction velocity, Decreased number of large... OMIM:162400
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity OMIM:183050
Roussy-Lévy Syndrome
Postural tremor, Decreased motor nerve conduction velocity, Acute demyelinating polyneuropathy ORPHA:3115
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:600361
Neuronopathy, Distal Hereditary Motor, Type Vc
Decreased compound muscle action potential amplitude OMIM:619112
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity OMIM:615575
Leukodystrophy, Hypomyelinating, 5
Leukodystrophy, Decreased motor nerve conduction velocity, Intention tremor, Onion bulb formation... OMIM:610532
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerv... OMIM:302800
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, L... OMIM:218000
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Hand tremor ORPHA:401830
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Chronic axonal neuropathy OMIM:606595
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity ORPHA:1188
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Tremor, Optic atrophy ORPHA:99014
Autosomal Recessive Spastic Paraplegia Type 67
Limb tremor, Abnormal myelination ORPHA:401820
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity OMIM:603472
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Abnormal sensory nerve conduction velocity ORPHA:276435
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Axonal degeneration, Peripheral axonal degeneration, A... OMIM:614436
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity OMIM:302802
Autosomal Dominant Spastic Paraplegia Type 17
Postural tremor, Abnormal motor nerve conduction velocity ORPHA:100998
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity, Intention tremor OMIM:618356
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity OMIM:605726
Wild Type Abeta2M Amyloidosis
Axonal loss, Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity ORPHA:85446
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased numbe... OMIM:201300
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:606070
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Orthostatic hypotension, Axonal loss, Enhanced neurotoxicity of vincristine, Degeneration of ante... OMIM:118301
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral demyelination, Peripheral hypomyelination, Abnormal autonomic nervous system physiolog... OMIM:609136
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Axonal degeneration, Decreased nerve conduction velocity OMIM:618138
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Head tremor, Absent brainstem auditory responses, Decreased num... ORPHA:101085
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Abnormal autonomic nervous ... ORPHA:139578
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Optic atrophy, Intention tremor OMIM:612674
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Peripheral axonal degenera... OMIM:604168
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Late-Infantile/Juvenile Krabbe Disease
Tremor, Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic act... ORPHA:206443
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity OMIM:118300
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Tremor, Abnormal peripheral action potential amplitude ORPHA:90117
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Decreased nerve conduction velocity, Axonal degeneration, Degeneration of anterior horn cells, Pe... OMIM:604320
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Peripheral axonal neuropathy, Decreased nerve conduction velocity ORPHA:435387
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Facial palsy OMIM:607684
Combined Oxidative Phosphorylation Defect Type 13
Delayed myelination, Decreased nerve conduction velocity ORPHA:319514
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity OMIM:159550
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential OMIM:618400
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, EEG with focal epileptiform discharges, Spinal cord po... ORPHA:1187
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Decreased nerve conduction velocity ORPHA:397744
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Hypermyel... OMIM:270550
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Abnormal myelination, Optic atrophy OMIM:618324
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Yuan-Harel-Lupski Syndrome
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity OMIM:616652
Cednik Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:66631
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Demyelina... ORPHA:298
Sialidosis Type 1
Tremor, EEG abnormality, Decreased nerve conduction velocity ORPHA:812
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Motor axonal neuropathy, Intention tremor ORPHA:48431
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
Spinocerebellar Ataxia Type 1
Postural tremor, Abnormal nerve conduction velocity, Optic atrophy, Abnormality of somatosensory ... ORPHA:98755
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy OMIM:615419
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Leukodystrophy, Intention tremor ORPHA:309263
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination, Optic atrophy ORPHA:352682
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:619026
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity ORPHA:1933
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity OMIM:603516
Metachromatic Leukodystrophy
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity OMIM:250100
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Peripheral hypomyelination, Decreased nerve con... OMIM:618733
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity ORPHA:600
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Decreased nerve conduction velocity OMIM:256600
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Xeroderma Pigmentosum, Complementation Group B
Abnormal CNS myelination, Optic atrophy, Decreased nerve conduction velocity OMIM:610651
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Hypsarrhythmia, EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Optic disc p... ORPHA:485421
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral demyelination OMIM:609033
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Axonal degeneration/... OMIM:601152
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity OMIM:238970
Combined Oxidative Phosphorylation Defect Type 39
Decreased nerve conduction velocity, EEG abnormality, Optic disc pallor, Hypsarrhythmia ORPHA:565624
Metachromatic Leukodystrophy, Adult Form
Leukodystrophy, Orthostatic hypotension due to autonomic dysfunction, Intention tremor, Decreased... ORPHA:309271
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Hand tremor, Optic disc pallor, Optic neuropathy ORPHA:101076
Metachromatic Leukodystrophy, Late Infantile Form
Leukodystrophy, Optic atrophy, Decreased nerve conduction velocity ORPHA:309256
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93476
Lissencephaly 8
Abnormal myelination, Optic atrophy OMIM:617255
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Decr... OMIM:164400
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Abnormality of peripheral nerves, Abnormal peripheral... ORPHA:168563
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity OMIM:615368
Infantile Krabbe Disease
Opisthotonus, Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve cond... ORPHA:206436
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers ORPHA:477817
Autosomal Recessive Spastic Paraplegia Type 55
Onion bulb formation, Optic atrophy, Decreased sensory nerve conduction velocity, Optic neuropathy ORPHA:320375
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:256840
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Delayed myelination, CNS hypomyelination OMIM:618367
Cerebrotendinous Xanthomatosis
Abnormal motor evoked potentials, Resting tremor, Hypermyelinated retinal nerve fibers, CNS demye... ORPHA:909
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tremor, Abnormality of peripheral somatosensory evoked potentials, Abnormal motor nerve conductio... ORPHA:466768
Friedreich Ataxia
Decreased motor nerve conduction velocity, Impaired visually enhanced vestibulo-ocular reflex, Se... ORPHA:95
Cockayne Syndrome A
Peripheral dysmyelination, Tremor, Patchy demyelination of subcortical white matter, Abnormal aud... OMIM:216400
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Axonal degeneration, Abnormality of peripheral nerves, Abnormal sensory nerve conduction velocity... ORPHA:88628
Cockayne Syndrome B
Peripheral dysmyelination, Tremor, Patchy demyelination of subcortical white matter, Abnormal aud... OMIM:133540
Friedreich Ataxia
Decreased amplitude of sensory action potentials, Decreased sensory nerve conduction velocity, Op... OMIM:229300
Japanese Encephalitis
Pill-rolling tremor, Tremor, Decreased motor nerve conduction velocity, EEG with burst suppressio... ORPHA:79139
Infantile Neuroaxonal Dystrophy
Diffuse axonal swelling, Abnormal autonomic nervous system physiology, Peripheral axonal neuropat... ORPHA:35069
Chediak-Higashi Syndrome
Tremor, Decreased nerve conduction velocity OMIM:214500
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy OMIM:615663
Charcot-Marie-Tooth Disease Type 1E
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity ORPHA:90658
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Tremor, Head tremor, Chronic axonal neuropathy, Periph... OMIM:606002
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination, EEG with multifocal slow activity ORPHA:289266
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, EEG with multifocal slow activity, Hypsarrhythmia, Abnormal myelination, Optic atrophy ORPHA:442835
Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93474
Cockayne Syndrome
Intention tremor, Demyelinating peripheral neuropathy, Action tremor, Patchy demyelination of sub... ORPHA:191
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Facial pa... ORPHA:456312
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Decreased nerve conduction velocity OMIM:614863
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
D-Bifunctional Protein Deficiency
Cerebral dysmyelination, Decreased nerve conduction velocity OMIM:261515
Metachromatic Leukodystrophy
Tremor, Decreased nerve conduction velocity ORPHA:512
Chédiak-Higashi Syndrome
Tremor, Decreased nerve conduction velocity ORPHA:167
Congenital Disorder Of Deglycosylation
Delayed myelination, Decreased sensory nerve conduction velocity, Action tremor OMIM:615273
Charcot-Marie-Tooth Disease Type 4C
Abnormal motor nerve conduction velocity, Head tremor, Demyelinating peripheral neuropathy, Onion... ORPHA:99949
Cockayne Syndrome Type 1
Abnormality of peripheral nerve conduction, Tremor, Optic atrophy, Absent brainstem auditory resp... ORPHA:90321
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal myelination, Titubation, Cerebral hypomyelination ORPHA:280210
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:585
Mucopolysaccharidosis Type 2
Optic atrophy, Papilledema, Decreased nerve conduction velocity ORPHA:580
Cockayne Syndrome Type 3
Demyelinating peripheral neuropathy, Abnormal myelination, Peripheral axonal neuropathy, Intentio... ORPHA:90324
Hurler Syndrome
Abnormal nerve conduction velocity ORPHA:93473
Poliomyelitis
Abnormal motor nerve conduction velocity ORPHA:2912
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Abnormal myelination ORPHA:34527
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential OMIM:606071
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Delayed myelination, Axonal loss, Action tremor, Abnormal myelination, EEG abnormality, Optic atr... ORPHA:404454
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity ORPHA:285
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal myelination, Action tremor ORPHA:309854
Monosomy 18Q
Abnormal myelination ORPHA:1600
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of peripheral nerve conduction, Abnormality of the autonomic nervous system, Orthosta... ORPHA:642
Friedreich Ataxia 2
Abnormality of peripheral nerve conduction OMIM:601992
Choreoacanthocytosis
Decreased amplitude of sensory action potentials, Head titubation, Resting tremor, Decreased numb... ORPHA:2388
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Abnormality of peripheral nerve conduction OMIM:302900
Friedreich Ataxia And Congenital Glaucoma
Decreased amplitude of sensory action potentials OMIM:229310
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
Erbintm380303(L1L2_Bact_P) Targeting vectors
Erbinem1(IMPC)Marc Indel causing a Frameshift Mutation Mice

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