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Pmp22Tr-2J
Spontaneous Allele Detail
Nomenclature
Symbol: Pmp22Tr-2J
Name: peripheral myelin protein 22; trembler 2 Jackson
MGI ID: MGI:5515890
Gene: Pmp22  Location: Chr11:63128982-63159547 bp, + strand  Genetic Position: Chr11, 38.99 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThis spontaneous C-to-A transversion on chromosome 11 position 6,3151,168 (GRCm38) changes a codon in exon 4 and causes a serine to arginine substitution at amino acid 76 (p.S76R), which is in the second transmembrane domain. (J:201866)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  18 strains or lines available
References
Original:  J:201866 Dionne L, et al., Trembler 2 Jackson, a spontaneous point mutation in Pmp22. MGI Direct Data Submission. 2013;
All:  1 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
02/23/2021
MGI 6.16
The Jackson Laboratory