这些突变体有一个C到A的转换,导致产生一个终止密码子,产生了一个正常3,100个氨基酸的正常蛋白质的1,880氨基酸短片段,并缺失了五个CALXbeta结构域。如果产生了截短的蛋白质,几个保守区域的丢失暗示该产物功能可能有限。(来源:J:101189)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
隐性
1
7
2

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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