Brca2^em1Mjn
Endonuclease-mediated Allele Detail

Summary

• Symbol: Brca2^em1Mjn
• Name: breast cancer 2, early onset; endonuclease-mediated mutation 1, Maria Jasin
• MGI ID: MGI:7641727
• Synonyms: Brca2^S3214A, Brca2^SA
• Gene: Brca2 Location: Chr5:150446095-150493794 bp, + strand Genetic Position: Chr5, 89.52 cM
• Alliance: Brca2^em1Mjn page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Single point mutation
• Mutation details: Serine codon 3214 (TCT) in exon 27 was changed to alanine (GCT) (p.S3214A) using TALENs. The mutation disrupts the C-terminal RAD51 interaction site of the encoded peptide but doesn't affect its homology-directed repair function. (J:346092)

Tumor Data

List all tumor models in MMHCdb carrying Brca2^em1Mjn

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:346092 Lim PX, et al., BRCA2 promotes genomic integrity and therapy resistance primarily through its role in homology-directed repair. Mol Cell. 2024 Feb 1;84(3):447-462.e10
• All: 2 reference(s)