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这个由ENU诱发的c.276+5G>A变异，发生在转录起始点的内含子切割位点，预测会导致exon 2的缺失，进而造成从Val33到Ile92的整个内联框缺失，其中包括大部分的FKBP同源域(来源：J:243745)
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
