这个等位基因通过与Lystbg的非互补测试来定义,是由于第54外显子的3个碱基内含子缺失导致的,这导致了靠近蛋白质羧基端的两个连续的异亮氨酸(Ile)在密码位3740和3741上丢失。这个缺失影响了WD40结构域。(来源:J:7539, J:173521)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Spontaneous
基因内删除
隐性
1
2
35

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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