Brca2^tm3.1Sks
Targeted Allele Detail

Summary

• Symbol: Brca2^tm3.1Sks
• Name: breast cancer 2, early onset; targeted mutation 3.1, Shyam K Sharan
• MGI ID: MGI:7565556
• Synonyms: Brca2^R2971Q, Brca2^RQ
• Gene: Brca2 Location: Chr5:150446095-150493794 bp, + strand Genetic Position: Chr5, 89.52 cM
• Alliance: Brca2^tm3.1Sks page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:342841
• Parent Cell Line: v6.4 (ES Cell)
• Strain of Origin: (C57BL/6J x 129S4/SvJae)F1

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: An AGG to CAG change resulting in an arginine to glutamine substitution at amino acid 2971 (p.R2971Q) was introduced in exon 24. A loxP-PGK-Tn5-neomycin-bp(A)-loxP site cassette was inserted in intron 24. The neomycin cassette was removed via cre-mediated recombination. This is equivalent to R3052Q in human BRCA2. (J:342841)

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 Brca2 Mutation: 131 strains or lines available

References

• Original: J:342841 Mishra AP, et al., Characterization of BRCA2 R3052Q variant in mice supports its functional impact as a low-risk variant. Cell Death Dis. 2023 Nov 18;14(11):753
• All: 1 reference(s)