ENU诱变在染色体11的9,863,5919位点产生了一个A到G的转换,或者在GenBank的NC_000077基因组区域的9,560位。这个变异对应于NM_001007461 mRNA序列的第9个外显子中的第1,113位点。这个突变导致了酪氨酸(Y)变为 cysteine(C)的氨基酸替换,即Y344C(J:209203)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
显性
1
--
--

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
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