编码序列分析揭示了一个在第1772位的G变为了A的点突变,导致了第582位的谷氨酸被替换为赖氨酸(p.E582K),这个位置距离激酶域的N端只有四个氨基酸(来源:J:10528, J:28221)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Spontaneous
单点
半显性
1
27
6

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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