这种突变是通过用异丙基甲烷磺酸钠处理雄性小鼠诱导产生的。测序结果显示第四个跨膜域有一个T到A的错义突变,导致了亮氨酸替换为谷氨酰胺。 Western blot结果显示,无论是突变型还是野生型,都存在一个167KD的蛋白质。(来源:J:92612)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C3H/He x 102/El)F1
Chemically induced
单点
显性
1
6
5

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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