这种自发突变是SNP rs221612964的次要变异,它缺少TATT序列中的A,导致外显子2中的TTT。这产生了一个在C57BL/6纯种中特有的非功能基因,而其他16个测试的品种都有TATT序列,从而产生正常的功能基因。(来源:J:291240)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
C57BL/6
Spontaneous
基因内删除
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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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