ENU诱导在exon 7发生了一个A到G的突变(c.971A>G),导致酪氨酸被 cysteine 替换,位置为p.Y324C。这个错义突变位于编码肽的κ螺旋区域。突变蛋白能稳定表达。(引用:J:98216, J:179805)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
--
1
2
4

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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