Pmp22^Tr-J
Spontaneous Allele Detail

Summary

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

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• 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

Disease models

Expression

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

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: 33 strains or lines available

References

• 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: 36 reference(s)