在第18外显子的一个T4286A转换产生了L1429X的终止密码突变。这种突变推测会导致缺少最末端的NLS、SANT和BRK域的蛋白质。(来源:J:104123)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
BALB/cOlaHsd
Chemically induced
核苷酸替换
显性
1
13
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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