ENSMUSG00000018217


Mus musculus

Features
Gene ID: ENSMUSG00000018217
  
Biological name :Pmp22
  
Synonyms : peripheral myelin protein 22 isoform 2 / Pmp22
  
Possible biological names infered from orthology : peripheral myelin protein 22 / Q01453
  
Species: Mus musculus
  
Chr. number: 11
Strand: 1
Band: B3
Gene start: 63128982
Gene end: 63159547
  
Corresponding Affymetrix probe sets: 10376950 (MoGene1.0st)   1417133_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000104340
Ensembl peptide - ENSMUSP00000104341
Ensembl peptide - ENSMUSP00000104342
Ensembl peptide - ENSMUSP00000018361
NCBI entrez gene - 18858     See in Manteia.
MGI - MGI:97631
RefSeq - NM_008885
RefSeq - NM_001302260
RefSeq - NM_001302255
RefSeq - NM_001302257
RefSeq - NM_001302258
RefSeq - NM_001302259
RefSeq - NM_001302261
RefSeq Peptide - NP_001289184
RefSeq Peptide - NP_001289186
RefSeq Peptide - NP_001289187
RefSeq Peptide - NP_001289188
RefSeq Peptide - NP_001289189
RefSeq Peptide - NP_001289190
RefSeq Peptide - NP_032911
swissprot - Q5SXS3
Ensembl - ENSMUSG00000018217
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pmp22aENSDARG00000105223Danio rerio
 pmp22bENSDARG00000060457Danio rerio
 PMP22ENSGALG00000031425Gallus gallus
 PMP22ENSG00000109099Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Emp3 / O35912 / Epithelial membrane protein 3 / P54852*ENSMUSG0000004021244
Emp2 / O88662 / Epithelial membrane protein 2 / P54851*ENSMUSG0000002250543
Emp1 / P47801 / Epithelial membrane protein 1 / P54849*ENSMUSG0000003020838


Protein motifs (from Interpro)
Interpro ID Name
 IPR003936  Peripheral myelin protein PMP22
 IPR004031  PMP-22/EMP/MP20/Claudin superfamily
 IPR004032  PMP-22/EMP/MP20


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008219 cell death IEA
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0010977 negative regulation of neuron projection development IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0032060 bleb assembly IEA
 biological_processGO:0042552 myelination IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005923 bicellular tight junction IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043218 compact myelin IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Hipk1tm1Hko/Hipk1tm1Hko,Hipk2tm1Hko/Hipk2tm1Hko,Trp53tm2Mok/Trp53+
Genetic Background: involves: 129S/SvEv * C57BL/6

Allelic Composition: Pmp22Tr/Pmp22+
Genetic Background: Not Specified

Allelic Composition: Pmp22Tr-J/?
Genetic Background: involves: C57BL/6J

Allelic Composition: Pmp22Tr/?
Genetic Background: Not Specified

Allelic Composition: Pmp22Tr/Pmp22Tr
Genetic Background: Not Specified

Allelic Composition: Pmp22tm1Ueli/Pmp22tm1Ueli
Genetic Background: involves: 129S/SvEv

Allelic Composition: Pmp22Tr-3H/Pmp22+
Genetic Background: involves: BALB/c * C3H/HeH

Allelic Composition: Pmp22Tr-2H/Pmp22+
Genetic Background: involves: BALB/cAnNCrl * C3H/HeN

Allelic Composition: Pmp22Tr-1H/Pmp22+
Genetic Background: involves: BALB/cAnNCrl * C3H/HeN

Allelic Composition: Pmp22Mhdatre002/Pmp22Mhdatre002
Genetic Background: C3HeB/FeJ-Pmp22Mhdatre002

Allelic Composition: Pmp22M1247Lja/Pmp22+
Genetic Background: involves: C57BL/6J * DBA

Allelic Composition: Pmp22Tr-2J/Pmp22+
Genetic Background: C57BL/6J-Pmp22Tr-2J/GrsrJ

 MP:0000747 muscle weakness "loss of muscle strength" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Hipk1tm1Hko/Hipk1tm1Hko,Hipk2tm1Hko/Hipk2tm1Hko,Trp53tm2Mok/Trp53+
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0000749 muscle degeneration "pathological deterioration of muscle tissue, often accompanied by loss of function" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Pmp22Tr/Pmp22Tr
Genetic Background: Not Specified

 MP:0000755 hindlimb paralysis "loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Hipk1tm1Hko/Hipk1tm1Hko,Hipk2tm1Hko/Hipk2tm1Hko,Trp53tm2Mok/Trp53+
Genetic Background: involves: 129S/SvEv * C57BL/6

Allelic Composition: Pmp22Tr/Pmp22+
Genetic Background: Not Specified

Allelic Composition: Pmp22tm1Ueli/Pmp22tm1Ueli
Genetic Background: involves: 129S/SvEv

 MP:0000756 forelimb paralysis "loss of power of voluntary movement in muscles of the forlimb through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Pmp22Tr/Pmp22+
Genetic Background: Not Specified

 MP:0000920 abnormal myelination "atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pmp22Tr-J/?
Genetic Background: involves: C57BL/6J

Allelic Composition: Pmp22Tr/?
Genetic Background: Not Specified

Allelic Composition: Pmp22Tr-J/Pmp22+
Genetic Background: involves: C57BL/6

Allelic Composition: Pmp22tm1Ueli/Pmp22tm1Ueli
Genetic Background: involves: 129S/SvEv

Allelic Composition: Pmp22tm1Ueli/Pmp22+
Genetic Background: involves: 129S/SvEv

Allelic Composition: Pmp22tm1Ueli/Pmp22tm1Ueli
Genetic Background: involves: 129S/SvEv * C57BL/6

Allelic Composition: Pmp22Tr-Ncnp/Pmp22Tr-Ncnp
Genetic Background: GAD/Ncnp-Pmp22Tr-Ncnp

 MP:0000921 demyelination "loss of the myelin sheath without loss of axons or fiber tracts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hipk1tm1Hko/Hipk1tm1Hko,Hipk2tm1Hko/Hipk2tm1Hko,Trp53tm2Mok/Trp53+
Genetic Background: involves: 129S/SvEv * C57BL/6

Allelic Composition: Pmp22Tr/Pmp22+
Genetic Background: Not Specified

Allelic Composition: Pmp22Tr/Pmp22Tr
Genetic Background: Not Specified

Allelic Composition: Pmp22Tr-J/Pmp22+
Genetic Background: B6.Cg-Pmp22Tr-J Krt25Re/+ +/J

Allelic Composition: Pmp22Tr-3H/Pmp22+
Genetic Background: involves: BALB/c * C3H/HeH

Allelic Composition: Pmp22Tr-2H/Pmp22+
Genetic Background: involves: BALB/cAnNCrl * C3H/HeN

Allelic Composition: Pmp22Tr-1H/Pmp22+
Genetic Background: involves: BALB/cAnNCrl * C3H/HeN

Allelic Composition: Pmp22Tr-Ncnp/Pmp22+
Genetic Background: GAD/Ncnp-Pmp22Tr-Ncnp

Allelic Composition: Pmp22Tr-2J/Pmp22+
Genetic Background: C57BL/6J-Pmp22Tr-2J/GrsrJ

 MP:0000947 convulsive seizures "seizures characterized by uncontrolled motor activity" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Slc6a4tm1Kpl/Slc6a4tm1Kpl
Genetic Background: B6.129-Slc6a4tm1Kpl

Allelic Composition: Pmp22tm1Ueli/Pmp22tm1Ueli
Genetic Background: involves: 129S/SvEv

 MP:0000961 abnormal dorsal root ganglia morphology "malformed group of nerve cell bodies of each segmental nerve projecting from the spinal cord " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:60159]
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Allelic Composition: Pmp22Tr-J/Pmp22+
Genetic Background: involves: C57BL/6

 MP:0001106 abnormal Schwann cell "malformed or absent cells which form the insulating myelin sheaths of peripheral axons" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Hipk1tm1Hko/Hipk1tm1Hko,Hipk2tm1Hko/Hipk2tm1Hko,Trp53tm2Mok/Trp53+
Genetic Background: involves: 129S/SvEv * C57BL/6

Allelic Composition: Pmp22Tr/Pmp22+
Genetic Background: Not Specified

Allelic Composition: Pmp22Tr-J/?
Genetic Background: involves: C57BL/6J

Allelic Composition: Pmp22Tr/?
Genetic Background: Not Specified

Allelic Composition: Pmp22Tr/Pmp22Tr
Genetic Background: Not Specified

Allelic Composition: Pmp22Tr-J/Pmp22+
Genetic Background: involves: C57BL/6

Allelic Composition: Pmp22tm1Ueli/Pmp22tm1Ueli
Genetic Background: involves: 129S/SvEv * C57BL/6

Allelic Composition: Pmp22Tr/?
Genetic Background: involves: CBA

Allelic Composition: Pmp22Tr-3H/Pmp22+
Genetic Background: involves: BALB/c * C3H/HeH

Allelic Composition: Pmp22Tr-2H/Pmp22+
Genetic Background: involves: BALB/cAnNCrl * C3H/HeN

Allelic Composition: Pmp22Tr-1H/Pmp22+
Genetic Background: involves: BALB/cAnNCrl * C3H/HeN

Allelic Composition: Pmp22Tr-Ncnp/Pmp22Tr-Ncnp
Genetic Background: GAD/Ncnp-Pmp22Tr-Ncnp

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Slc6a4tm1Kpl/Slc6a4tm1Kpl
Genetic Background: B6.129-Slc6a4tm1Kpl

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Pmp22Tr-2J/Pmp22+
Genetic Background: C57BL/6J-Pmp22Tr-2J/GrsrJ

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
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Allelic Composition: Pmp22Tr-3H/Pmp22+
Genetic Background: involves: BALB/c * C3H/HeH

Allelic Composition: Pmp22Tr-2H/Pmp22+
Genetic Background: involves: BALB/cAnNCrl * C3H/HeN

Allelic Composition: Pmp22Tr-1H/Pmp22+
Genetic Background: involves: BALB/cAnNCrl * C3H/HeN

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Pmp22Tr/Pmp22Tr
Genetic Background: Not Specified

Allelic Composition: Pmp22Tr-3H/Pmp22+
Genetic Background: involves: BALB/c * C3H/HeH

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Hipk1tm1Hko/Hipk1tm1Hko,Hipk2tm1Hko/Hipk2tm1Hko,Trp53tm2Mok/Trp53+
Genetic Background: involves: 129S/SvEv * C57BL/6

Allelic Composition: Pmp22Tr/Pmp22+
Genetic Background: Not Specified

Allelic Composition: Pmp22Tr-J/?
Genetic Background: involves: C57BL/6J

Allelic Composition: Pmp22Tr/?
Genetic Background: Not Specified

Allelic Composition: Pmp22Tr/Pmp22Tr
Genetic Background: Not Specified

Allelic Composition: Pmp22Tr-J/Pmp22+
Genetic Background: involves: C57BL/6

Allelic Composition: Pmp22Tr-3H/Pmp22+
Genetic Background: involves: BALB/c * C3H/HeH

Allelic Composition: Pmp22Tr-2H/Pmp22+
Genetic Background: involves: BALB/cAnNCrl * C3H/HeN

Allelic Composition: Pmp22Tr-1H/Pmp22+
Genetic Background: involves: BALB/cAnNCrl * C3H/HeN

Allelic Composition: Pmp22Tr-Ncnp/Pmp22+
Genetic Background: GAD/Ncnp-Pmp22Tr-Ncnp

Allelic Composition: Pmp22Tr-Ncnp/Pmp22Tr-Ncnp
Genetic Background: GAD/Ncnp-Pmp22Tr-Ncnp

Allelic Composition: Pmp22Tr-2J/Pmp22+
Genetic Background: C57BL/6J-Pmp22Tr-2J/GrsrJ

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Hipk1tm1Hko/Hipk1tm1Hko,Hipk2tm1Hko/Hipk2tm1Hko,Trp53tm2Mok/Trp53+
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0001516 abnormal motor coordination/ balance "altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pmp22Tr/?
Genetic Background: Not Specified

Allelic Composition: Pmp22tm1Ueli/Pmp22+
Genetic Background: involves: 129S/SvEv

Allelic Composition: Pmp22Tr-3H/Pmp22+
Genetic Background: involves: BALB/c * C3H/HeH

Allelic Composition: Pmp22Tr-2H/Pmp22+
Genetic Background: involves: BALB/cAnNCrl * C3H/HeN

Allelic Composition: Pmp22Tr-1H/Pmp22+
Genetic Background: involves: BALB/cAnNCrl * C3H/HeN

 MP:0001523 impaired righting response "reduced ability or greater amount of time needed to recover from supine position" [J:25565]
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Allelic Composition: Pmp22Tr-3H/Pmp22+
Genetic Background: involves: BALB/c * C3H/HeH

Allelic Composition: Pmp22Tr-2H/Pmp22+
Genetic Background: involves: BALB/cAnNCrl * C3H/HeN

Allelic Composition: Pmp22Tr-1H/Pmp22+
Genetic Background: involves: BALB/cAnNCrl * C3H/HeN

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Hipk1tm1Hko/Hipk1tm1Hko,Hipk2tm1Hko/Hipk2tm1Hko,Trp53tm2Mok/Trp53+
Genetic Background: involves: 129S/SvEv * C57BL/6

Allelic Composition: Pmp22Tr/Pmp22+
Genetic Background: Not Specified

 MP:0001922 reduced male fertility "reduced ability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61340]
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Allelic Composition: Pmp22Tr/Pmp22+
Genetic Background: Not Specified

Allelic Composition: Pmp22Tr-2J/Pmp22+
Genetic Background: C57BL/6J-Pmp22Tr-2J/GrsrJ

 MP:0001967 deafness "inability to hear" [J:57651]
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Allelic Composition: Pmp22Tr-2J/Pmp22+
Genetic Background: C57BL/6J-Pmp22Tr-2J/GrsrJ

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pmp22Tr-J/?
Genetic Background: involves: C57BL/6J

 MP:0002066 abnormal motor capabilities/coordination/movement "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hipk1tm1Hko/Hipk1tm1Hko,Hipk2tm1Hko/Hipk2tm1Hko,Trp53tm2Mok/Trp53+
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0002082 postnatal lethality "premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pmp22Tr/?
Genetic Background: Not Specified

 MP:0002566 abnormal sexual interaction "altered initiation, failure of initiation or incomplete mating behavior" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hipk1tm1Hko/Hipk1tm1Hko,Hipk2tm1Hko/Hipk2tm1Hko,Trp53tm2Mok/Trp53+
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0002882 abnormal neuron "anomaly in the functional cells of the nervous system that receive, conduct, and transmit impulses " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Hipk1tm1Hko/Hipk1tm1Hko,Hipk2tm1Hko/Hipk2tm1Hko,Trp53tm2Mok/Trp53+
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0002968 increased circulating alkaline phosphatase level "elevated activity of this enzyme, which hydrolyzes orthophosphoric monoesters, found in the blood" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Pmp22Mhdatre002/Pmp22Mhdatre002
Genetic Background: C3HeB/FeJ-Pmp22Mhdatre002

 MP:0003871 abnormal myelin sheath morphology "malformation of the insulating envelope that surrounds nerve fibers or axons" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Hipk1tm1Hko/Hipk1tm1Hko,Hipk2tm1Hko/Hipk2tm1Hko,Trp53tm2Mok/Trp53+
Genetic Background: involves: 129S/SvEv * C57BL/6

Allelic Composition: Pmp22tm1Lnot/Pmp22+
Genetic Background: Not Specified

Allelic Composition: Pmp22tm1Ueli/Pmp22tm1Ueli
Genetic Background: involves: 129S/SvEv

Allelic Composition: Pmp22tm1Ueli/Pmp22+
Genetic Background: involves: 129S/SvEv

 MP:0005402 abnormal action potential "change in the electric response of a nerve or other excitable tissue to its stimulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pmp22Tr-J/Pmp22+
Genetic Background: B6.Cg-Pmp22Tr-J Krt25Re/+ +/J

Allelic Composition: Pmp22tm1Ueli/Pmp22tm1Ueli
Genetic Background: involves: 129S/SvEv

 MP:0005404 abnormal axon morphology "anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Hipk1tm1Hko/Hipk1tm1Hko,Hipk2tm1Hko/Hipk2tm1Hko,Trp53tm2Mok/Trp53+
Genetic Background: involves: 129S/SvEv * C57BL/6

Allelic Composition: Pmp22Tr-J/Pmp22+
Genetic Background: involves: C57BL/6

Allelic Composition: Pmp22tm1Ueli/Pmp22tm1Ueli
Genetic Background: involves: 129S/SvEv

Allelic Composition: Pmp22tm1Ueli/Pmp22+
Genetic Background: involves: 129S/SvEv

 MP:0005405 axon degeneration "retrogressive pathologic change in the single process of a nerve cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Pmp22Tr-J/?
Genetic Background: involves: C57BL/6J

Allelic Composition: Pmp22Tr-3H/Pmp22+
Genetic Background: involves: BALB/c * C3H/HeH

Allelic Composition: Pmp22Tr-2H/Pmp22+
Genetic Background: involves: BALB/cAnNCrl * C3H/HeN

Allelic Composition: Pmp22Tr-1H/Pmp22+
Genetic Background: involves: BALB/cAnNCrl * C3H/HeN

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Pmp22Tr-J/Pmp22+
Genetic Background: B6.Cg-Pmp22Tr-J Krt25Re/+ +/J

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Pmp22Tr-2J/Pmp22+
Genetic Background: C57BL/6J-Pmp22Tr-2J/GrsrJ

 MP:0008260 abnormal autophagy "abnormal catabolic process involving the degradation of a cell s own components through the lysosomal machinery" [MGI:honda "Hiraoki Onda, Mouse Genome Informatics Curator"]
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Allelic Composition: Pmp22Tr-J/Pmp22+
Genetic Background: B6.Cg-Pmp22Tr-J Krt25Re/+ +/J

 MP:0008770 decreased survivor rate "a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Pmp22Tr/?
Genetic Background: Not Specified

 MP:0008814 reduced nerve conduction velocity "decrease in the rate at which an eletrical impulse travels through a nerve" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Pmp22tm1Ueli/Pmp22tm1Ueli
Genetic Background: involves: 129S/SvEv

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Pmp22Tr-3H/Pmp22+
Genetic Background: involves: BALB/c * C3H/HeH

Allelic Composition: Pmp22Tr-2H/Pmp22+
Genetic Background: involves: BALB/cAnNCrl * C3H/HeN

Allelic Composition: Pmp22Tr-1H/Pmp22+
Genetic Background: involves: BALB/cAnNCrl * C3H/HeN

 MP:0010742 increased Schwann cell number "greater than normal number of cells that sheath the axons of the peripheral nervous system" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pmp22Tr-J/?
Genetic Background: involves: C57BL/6J

 MP:0011083 complete lethality at weaning "premature death at weaning age of all organisms of a given genotype in a population, often due to the inability to make the transition to solid food" [MGI:csmith]
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Allelic Composition: Pmp22Tr/Pmp22+
Genetic Background: Not Specified

 MP:0011731 decreased myelin sheath thickness "decrease in the depth of the insulating envelope that surrounds nerve fibers or axons" [MGI:smb]
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Allelic Composition: Pmp22Tr-J/?
Genetic Background: involves: C57BL/6J

 MP:0011904 abnormal Schwann cell physiology "any functional anomaly of the cells which form the insulating myelin sheaths of peripheral axons" [MESH:A08.637.800]
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Allelic Composition: Pmp22tm1Ueli/Pmp22tm1Ueli
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0011906 increased Schwann cell proliferation "increase in the expansion rate of a Schwann cell population by cell division" [MGI:csmith]
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Allelic Composition: Pmp22tm1Ueli/Pmp22tm1Ueli
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
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Allelic Composition: Pmp22Tr-2J/Pmp22+
Genetic Background: C57BL/6J-Pmp22Tr-2J/GrsrJ

 MP:0012051 spasticity "a motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes and increased resistance to stretch" [HP:0001257, MGI:csmith]
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Allelic Composition: Pmp22Tr-2J/Pmp22+
Genetic Background: C57BL/6J-Pmp22Tr-2J/GrsrJ

 MP:0013438 dysmyelination "reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin" [MGI:csmith]
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Allelic Composition: Pmp22Tr-J/?
Genetic Background: involves: C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
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