Brca1^em2Njo
Endonuclease-mediated Allele Detail

Summary

• Symbol: Brca1^em2Njo
• Name: breast cancer 1, early onset; endonuclease-mediated mutation 2, Neil Johnson
• MGI ID: MGI:8460782
• Synonyms: Brca1^CC
• Gene: Brca1 Location: Chr11:101379590-101442781 bp, - strand Genetic Position: Chr11, 65.18 cM, cytoband D
• Alliance: Brca1^em2Njo page

Mutation origin

• Strain of Origin: (C57BL/6J x C3H/HeJ)F1/J

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Intragenic deletion
• Mutation details:

  The sequence coding for the coiled-coil (CC) domain was targeted using an sgRNA with CRISPR/Cas9 technology, resulting in a 9 bp deletion (ATAAAGCTG, p.I1361_L1363del). This deletion blocks the interaction between the Brca1 and Palb2 proteins, which leads to Fanconi anemia-like phenotypes. (J:295420)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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:295420 Nacson J, et al., BRCA1 Mutational Complementation Induces Synthetic Viability. Mol Cell. 2020 Jun 4;78(5):951-959.e6
• All: 1 reference(s)