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中文
第15外显子被设计用来将Leucine的密码子2431(CTG)替换为Proline(CCA)，即p.L2431P。随后通过Cre介导的重组，删除了内含子15中的诺卡因抗性基因座，这个座由loxP位点引导。这种变异模拟了Fanconi贫血(D1亚型，FANCD1)患者中发现的p.L2510P变异。(来源：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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
