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这个是在匹兹堡大学进行筛选时偶然发现的ENU诱发突变。分子异常是cDNA(NM_009756)第1外显子第328位的A替换为G，即c.328A>G。这导致编码蛋白质的第110位的天冬氨酸被转变为谷氨酸，即p.N110D。(引用：J:175213)
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
