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中文
这个突变被确定为在exon 6的第517位，由A替换为T。这导致了在第119位氨基酸位置由Arg变为Stop。这个变异发生在蛋白质的paired box区域。结果蛋白中，连接区域、homeodomain和P/S/T域都被删除了。（来源：J:73625）
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
