ENU诱变在exon 2的第718位产生了一个T到A的转换,导致了丝氨酸(Ser)被 cysteine(Cys)替换,位置为第227位(C227S)。转录表达的减少通过RT-PCR和原位杂交分析得到了确认(来源:J:169660)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
BALB/cRl
Chemically induced
单点
隐性
1
--
3

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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