对突变小鼠的测序结果显示,存在一个A856T的转换突变,导致了Ile286变为Phe(I286F),这在体外蛋白酶活性上受到了影响。Ile286是一个在编码蛋白的首个CUB域中高度保守的氨基酸。(来源:J:237155)

Basic Information

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

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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