Summary | Mutation origin | Mutation description | Find Mice (IMSR) | References

Symbol:	Brca1em1Njo
Name:	breast cancer 1, early onset; endonuclease-mediated mutation 1, Neil Johnson
MGI ID:	MGI:6281370
Synonyms:	Brca1deltaC
Gene:	Brca1  Location: Chr11:101379590-101442781 bp, - strand  Genetic Position: Chr11, 65.18 cM, cytoband D
Alliance:	Brca1em1Njo page

Strain of Origin:

(C57BL/6 x C3H)F1

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)

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:	113 strains or lines available

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)