Brca2^tm2.1Sks
Targeted Allele Detail

Summary

• Symbol: Brca2^tm2.1Sks
• Name: breast cancer 2, early onset; targeted mutation 2.1, Shyam K Sharan
• MGI ID: MGI:7278767
• Synonyms: Brca2^L2431P, Brca2^LP
• Gene: Brca2 Location: Chr5:150446095-150493794 bp, + strand Genetic Position: Chr5, 89.52 cM
• Alliance: Brca2^tm2.1Sks page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:323630
• Parent Cell Line: v6.4 (ES Cell)
• Strain of Origin: (C57BL/6J x 129S4/SvJae)F1

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: Exon 15 was targeted to change leucine codon 2431 (CTG) to proline (CCA) (p.L2431P). The loxP site flanked neomycin resistance gene cassette that was inserted into intron 15 was removed through subsequent cre-mediated recombination. The mutation mimics the p.L2510P mutation found in Fanconi anemia (FA) subtype D1 (FANCD1) patients. (J:323630)

Expression

In Structures Affected by this Mutation:

3 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 Brca2 Mutation: 132 strains or lines available

References

• Original: J:323630 Mishra AP, et al., BRCA2-DSS1 interaction is dispensable for RAD51 recruitment at replication-induced and meiotic DNA double strand breaks. Nat Commun. 2022 Apr 1;13(1):1751
• All: 1 reference(s)