Borcs7^tm1Bhk
Targeted Allele Detail

Summary

• Symbol: Borcs7^tm1Bhk
• Name: BLOC-1 related complex subunit 7; targeted mutation 1, Beverly H Koller
• MGI ID: MGI:6280949
• Gene: Borcs7 Location: Chr19:46678345-46691821 bp, + strand Genetic Position: Chr19, 38.97 cM, cytoband D1
• Alliance: Borcs7^tm1Bhk page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:271219
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A targeting vector was designed to replace the entire 13.3 kb of the gene, including the entire coding sequence, with a phosphoglycerate kinase-driven neomycin resistance gene. Homologous recombination results in deletion of a segment of chromosome 10 extending from 102,854,233-102,862,254 (GRCh38/hg38). (J:271219)

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: 6 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)