这个位于15号染色体15,986,841位的G到T的自发C到A突变(负链上的G到T),位于靠近第26外显子的CAG剪接点内,被改变为CAT,预测会导致正常剪接受阻。(来源:J:206718, J:222308, J:223062)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J-KitW-v/J
Spontaneous
单点
显性
1
36
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
No Data Found!
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