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Pmp22Tr-3H
Chemically induced Allele Detail
Summary
Symbol: Pmp22Tr-3H
Name: peripheral myelin protein 22; trembler 3 Harwell
MGI ID: MGI:2388488
Synonyms: Gena370, Tr-m3H
Gene: Pmp22  Location: Chr11:63019808-63050373 bp, + strand  Genetic Position: Chr11, 38.99 cM
Alliance: Pmp22Tr-3H page
Mutation
origin
Strain of Origin:  BALB/c
Project Collection: Harwell ENU Mutagenesis
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsSequence analysis reveals a T to A transversion at the first base of codon 72 leading to a serine to threonine substitution in the second membrane domain of Pmp22. (J:79382)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Pmp22 Mutation:  32 strains or lines available
References
Original:  J:79382 Isaacs AM, et al., Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy. Mol Cell Neurosci. 2002 Sep;21(1):114-25
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory