Brca1^em1Nki
Endonuclease-mediated Allele Detail

Summary

• Symbol: Brca1^em1Nki
• Name: breast cancer 1, early onset; endonuclease-mediated mutation 1, The Netherlands Cancer Institute
• MGI ID: MGI:6276141
• Synonyms: Brca1 L1363P
• Gene: Brca1 Location: Chr11:101379590-101442781 bp, - strand Genetic Position: Chr11, 65.18 cM, cytoband D
• Alliance: Brca1^em1Nki page

Mutation origin

• Strain of Origin: FVB/N

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR-targeting with gRNA(5'-TTTCCTGCTGCAGCTTTATCAGG-3') introduced a point mutation in exon 12 L1363P (CTG>CCC) and silent mutations in K1362K (AAG>AAA) and I1361I (ATA>ATT). (J:316877)

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: 113 strains or lines available

References

• Original: J:316877 Pulver EM, et al., A BRCA1 Coiled-Coil Domain Variant Disrupting PALB2 Interaction Promotes the Development of Mammary Tumors and Confers a Targetable Defect in Homologous Recombination Repair. Cancer Res. 2021 Dec 15;81(24):6171-6182
• All: 1 reference(s)