Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Pmp22Tr-2J
Name:	peripheral myelin protein 22; trembler 2 Jackson
MGI ID:	MGI:5515890
Gene:	Pmp22  Location: Chr11:63019808-63050373 bp, + strand  Genetic Position: Chr11, 38.99 cM
Alliance:	Pmp22Tr-2J page

Strain of Origin:

C57BL/6J

Allele Type:    Spontaneous Mutation:    Single point mutation   Mutation details: This 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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	32 strains or lines available

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)