Pmp22^Tr-3H
Chemically induced Allele Detail

Summary

• Symbol: Pmp22^Tr-3H
• Name: peripheral myelin protein 22; trembler 3 Harwell
• MGI ID: MGI:2388488
• Synonyms: Gena370, Tr-m3H
• Gene: Pmp22 Location: Chr11:63019808-63050373 bp, + strand Genetic Position: Chr11, 38.99 cM
• Alliance: Pmp22^Tr-3H page

Mutation origin

• Strain of Origin: BALB/c
• Project Collection: Harwell ENU Mutagenesis

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: Sequence analysis reveals a T to A transversion at the first base of codon 72 leading to a serine to threonine substitution in the second membrane domain of Pmp22. (J:79382)
• Inheritance: Dominant

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:79382 Isaacs AM, et al., Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy. Mol Cell Neurosci. 2002 Sep;21(1):114-25
• All: 2 reference(s)