7号染色体142,385,619位的自发C转T突变(负链上的G转A),在GRCm38中,导致了exon 2的剪接接受体位点从CAG变为CAA,从而破坏了它。(来源:J:229377)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3HeB/FeJ
Spontaneous
单点
隐性
1
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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