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 Type	Results
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 Model	OTTMUSG00000005884 (Evidence)
Ensembl Gene Model	ENSMUSG00000018217 (Evidence)
Entrez Gene	18858 (Evidence)
UniGene	1237
DFCI	TC1575712
DoTS	DT.533301
NIA Mouse Gene Index	U012749
Consensus CDS Project	CCDS24837.1
International Mouse Knockout Project Status	Pmp22

Sequences

Length	Strain/Species
genomic	OTTMUSG00000005884	VEGA Gene Model | MGI Sequence Detail	30566	C57BL/6J
transcript	OTTMUST00000013101	VEGA | MGI Sequence Detail	1800	Not Applicable
polypeptide	OTTMUSP00000006081	VEGA | MGI Sequence Detail	160	Not Applicable

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

Resource	ID	Description
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