Borcs7^Q87X
Spontaneous Allele Detail

Summary

• Symbol: Borcs7^Q87X
• Name: BLOC-1 related complex subunit 7; Q87X
• MGI ID: MGI:6281438
• Gene: Borcs7 Location: Chr19:46678345-46691821 bp, + strand Genetic Position: Chr19, 38.97 cM, cytoband D1
• Alliance: Borcs7^Q87X page

Mutation origin

• Strain of Origin: 129S6/SvEvTac or C57BL/6 or DBA/2

Mutation description

• Allele Type: Spontaneous (Not Specified)
• Mutation: Single point mutation
• Mutation details: A spontaneous C-to-T mutation was identified that is a single base pair substitution in exon 4 generating a nonsense mutation in which the glutamine at amino acid 87 is mutated to a premature stop codon (Q87X) and results in a truncated protein lacking 18 amino acids at its C terminus. The mutation occurred spontaneously on a mixed background consisting of 129S6/SvEvTac, C57BL/6 and DBA/2. (J:271219)
• Inheritance: Recessive

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Borcs7 Mutation: 7 strains or lines available

References

• Original: J:271219 Snouwaert JN, et al., A Mutation in the Borcs7 Subunit of the Lysosome Regulatory BORC Complex Results in Motor Deficits and Dystrophic Axonopathy in Mice. Cell Rep. 2018 Jul 31;24(5):1254-1265
• All: 1 reference(s)