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Pmp22Mhdatre002
Chemically induced Allele Detail
Summary
Symbol: Pmp22Mhdatre002
Name: peripheral myelin protein 22; tremor mutant 002
MGI ID: MGI:5425012
Synonyms: Pmp22TRE002, TRE002
Gene: Pmp22  Location: Chr11:63019808-63050373 bp, + strand  Genetic Position: Chr11, 38.99 cM
Alliance: Pmp22Mhdatre002 page
Mutation
origin
Strain of Origin:  C3HeB/FeJ
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsThis ENU-induced mutation was isolated in a screen for metabolic bone disease as part of the Munich ENU Mutagenesis Project. The molecular lesion is a mutation in exon 4 of the gene, altering nucleotide 206 from T-to-A in codon 69, predicted to result in an amino acid change from Methionine to Lysine (M69K). (J:82809)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Pmp22 Mutation:  33 strains or lines available
References
Original:  J:183993 Sabrautzki S, et al., New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis. Mamm Genome. 2012 Aug;23(7-8):416-30
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
12/10/2024
MGI 6.24
The Jackson Laboratory