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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. (J:323630)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
