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

Symbol:	Pmp22Tr-J
Name:	peripheral myelin protein 22; trembler Jackson
MGI ID:	MGI:1856217
Synonyms:	trembler-j, TrJ, TrJ
Gene:	Pmp22  Location: Chr11:63019808-63050373 bp, + strand  Genetic Position: Chr11, 38.99 cM
Alliance:	Pmp22Tr-J page

Strain of Origin:

C57BL/6J

Allele Type:    Spontaneous Mutation:    Single point mutation   Mutation details: Sequence analysis of cDNA showed a T-to-C transition at coding nucleotide 47 resulting in the substitution of a leucine residue by a proline residue at position 16 (p.L16P). (J:1058, J:3394) Inheritance:    Semidominant

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

In Mice Carrying this Mutation:	1 assay results
In Structures Affected by this Mutation:	4 anatomical structure(s)

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

Original:	J:7222 Henry EW, et al., Comparison of Trembler and Trembler-J mouse phenotypes: varying severity of peripheral hypomyelination. J Neuropathol Exp Neurol. 1983 Nov;42(6):688-706
All:	35 reference(s)