Brca1^tm2Rjbr
Targeted Allele Detail

Summary

• Symbol: Brca1^tm2Rjbr
• Name: breast cancer 1, early onset; targeted mutation 2, Richard J Baer
• MGI ID: MGI:5494434
• Synonyms: Brca1^S1598F, Brca1^tm2.1Thl
• Gene: Brca1 Location: Chr11:101379590-101442781 bp, - strand Genetic Position: Chr11, 65.18 cM, cytoband D
• Alliance: Brca1^tm2Rjbr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:177853
• Parent Cell Line: KV1 (ES Cell)
• Strain of Origin: (C57BL/6J x 129S6/SvEvTac)F1

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 16 was replaced with one in which nucleotide substitution(s) result(s) in the amino acid substitution of serine with phenylalanine at position 1598 (p.S1598F). (J:177853, J:197744)

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 Brca1 Mutation: 114 strains or lines available

References

• Original: J:177853 Shakya R, et al., BRCA1 tumor suppression depends on BRCT phosphoprotein binding, but not its E3 ligase activity. Science. 2011 Oct 28;334(6055):525-8
• All: 5 reference(s)