Allele/Variant

Brca2tm2.1Sks

Species
Mus musculus
Symbol
Brca2tm2.1Sks
Category
allele
Allele of gene
Brca2
Transgenic Constructs
None
Synonyms
  • Brca2L2431P
  • Brca2LP
Description
Exon 15 was targeted to change leucine codon 2431 (CTG) to proline (CCA) (p.L2431P). The loxP site flanked neomycin resistance gene cassette that was inserted into intron 15 was removed through subsequent cre-mediated recombination. The mutation mimics the p.L2510P mutation found in Fanconi anemia (FA) subtype D1 (FANCD1) patients.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations