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Pmp22
Gene Detail
 Symbol
Name
ID
Pmp22
peripheral myelin protein 22
MGI:97631
Synonyms Gas-3
Feature Type protein coding gene
Genetic Map
Chromosome 11
38.99 cM
Detailed Genetic Map ± 1 cM


Mapping data(31)
Sequence Map
Chr11:63128982-63159547 bp, + strand
From VEGA annotation of GRCm38

  30566 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7482  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: peripheral myelin protein 22/epithelial membrane protein
Gene Tree: Pmp22

Human
homologs
Human Homolog PMP22, peripheral myelin protein 22
NCBI Gene ID 5376
neXtProt AC  NX_Q01453
Human Synonyms  CMT1A, CMT1E, DSS, GAS-3, HMSNIA, HNPP, Sp110
Human Chr (Location)  17p12; chr17:15229777-15265357 (-)  GRCh38
Disease Associations  (6) Diseases Associated with Human PMP22
Alleles
and
phenotypes
All alleles(12) : Chemically induced (ENU)(4) Spontaneous(4) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Mice with one or two copies of several mutations exhibit tremors, a tendency toward seizures, and partial paralysis associated with demyelination and loss of peripheral axons. Mutants have high juvenile mortality and males are often sterile.
 
Human Diseases Modeled Using Mouse Pmp22 (5)    Alleles Annotated to Human Diseases(4)   
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process cell cycle, cell cycle arrest, ...
Component compact myelin, integral component of membrane, ...
External Resources: FuncBase
Expression
Literature Summary: (11 records)
Data Summary: Results (38)    Tissues (34)   
Theiler Stages: 15, 19, 22, 24, 26, 28
Assay TypeResults
RNA in situ 38
cDNA source data(67)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress
Molecular
reagents
All nucleic(78) Genomic(4) cDNA(67) Primer pair(6) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000005884 (Evidence)
Ensembl Gene ModelENSMUSG00000018217 (Evidence)
Entrez Gene18858 (Evidence)
UniGene1237
DFCITC1575712
DoTSDT.533301
NIA Mouse Gene IndexU012749
Consensus CDS ProjectCCDS24837.1
International Mouse Knockout Project StatusPmp22
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005884 VEGA Gene Model | MGI Sequence Detail 30566 C57BL/6J ±  kb
transcript OTTMUST00000013101 VEGA | MGI Sequence Detail 1800 Not Applicable 
polypeptide OTTMUSP00000006081 VEGA | MGI Sequence Detail 160 Not Applicable 

For the selected sequences
All sequences(45) RefSeq(12) UniProt(2)
Polymorphisms All PCR and RFLP(7) : PCR(4) RFLP(3) SNPs within 2kb(246 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003936 Peripheral myelin protein PMP22
InterPro IPR004032 PMP-22/EMP/MP20
InterPro IPR004031 PMP-22/EMP/MP20/Claudin
Protein Ontology PR:000012910 peripheral myelin protein 22
References (Earliest) J:13038 Falconer DS, Two new mutants, "trembler" and "reeler," with neurological actions in the house mouse. J Genet. 1951;50:192-201
(Latest) J:202239 Okamoto Y, et al., Curcumin facilitates a transitory cellular stress response in Trembler-J mice. Hum Mol Genet. 2013 Dec 1;22(23):4698-705
All references(182)
Other
accession IDs
MGD-MRK-13371, MGD-MRK-15215, MGD-MRK-9988

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory