The targeting vector contains a loxP-flanked neomycin inserted into intron 3 and the following AAE amino acid substitutions - phenylalanine to alanine at position 125 (F125A, TTT to GCT), aspartic acid to alanine at position 127 (D127A, GAT to GCT), and alanine to glutamic acid at position 128 (A128E, GCA to GAA) - inserted into exon 4. The mutations correspond to human mutations (F133, D135, F136) that disrupt the interaction of BARD1 with Rad51 and impair the strand-invasion step of homologous recombination. Cre-mediated recombination removed the neo cassette. (J:94077)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6J x 129S6/SvEvTac)F1
Targeted
Nucleotide substitutions
--
1
3
--

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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