An AGG to CAG change resulting in an arginine to glutamine substitution at amino acid 2971 (p.R2971Q) was introduced in exon 24. A loxP-PGK-Tn5-neomycin-bp(A)-loxP site cassette was inserted in intron 24. The neomycin cassette was removed via cre-mediated recombination. This is equivalent to R3052Q in human BRCA2. (J:342841)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6J x 129S4/SvJae)F1
Targeted
Insertion, Nucleotide substitutions
--
1
37
1

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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