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中文
这个突变被确定为在exon 6的第469位，从C变为T的替换。这导致了在第103位氨基酸位置由Gln变为Stop的改变。这个变异位于蛋白质的paired box区域。在产生的蛋白质中，paired box域、连接区、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
