Pmp22^Tr-2J
Spontaneous Allele Detail

Summary

• Symbol: Pmp22^Tr-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: Pmp22^Tr-2J page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• 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

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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: 33 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)