这个等位基因包含Vps52的一个突变,Vps52t-w5,它在C57BL/6野生型序列的连续G核苷酸段的起始处插入了2个G碱基,导致了框移突变,产生了一个早终止密码子。Vps52的这个突变是导致这个等位基因纯合致死表型的原因。(来源:J:190873)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
wild-derived
Spontaneous
Inversion, Nucleotide repeat expansion
隐性
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16

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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