Brca1^em1Njo
Endonuclease-mediated Allele Detail

Summary

• Symbol: Brca1^em1Njo
• Name: breast cancer 1, early onset; endonuclease-mediated mutation 1, Neil Johnson
• MGI ID: MGI:6281370
• Synonyms: Brca1^deltaC
• Gene: Brca1 Location: Chr11:101379590-101442781 bp, - strand Genetic Position: Chr11, 65.18 cM, cytoband D
• Alliance: Brca1^em1Njo page

Mutation origin

• Strain of Origin: (C57BL/6 x C3H)F1

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 4 bp deletion (c.4080-4083) resulting in a frame shift mutation. This mutation results in a p.1361fs28X stop codon in the coiled-coil (CC) domain that blocks translation in the CC domain and is predicted to cause loss of the C-terminal region of the protein that includes the CC and BRCT domains. (J:271205)

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 Brca1 Mutation: 114 strains or lines available

References

• Original: J:271205 Nacson J, et al., BRCA1 Mutation-Specific Responses to 53BP1 Loss-Induced Homologous Recombination and PARP Inhibitor Resistance. Cell Rep. 2018 Sep 25;24(13):3513-3527.e7
• All: 1 reference(s)