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中文
这个是在匹兹堡大学进行的筛选中发现的ENU诱发突变。分子异常是cDNA序列第8外显子第1541位的T到C替换，变异编码为c.1541T>C（NM_001159571）。这导致了编码蛋白的第514位由Valine变为Alanine，即p.V514A（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
