在exon 8上游7个核苷酸的位置产生了一个新的剪接接受位点,通过这个点突变(T变G)。这个突变导致转录的mRNA在exon 7(Q302)和exon 8(V303)之间增加了6个碱基(两个密码子,FQ)。(来源:J:85651)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
隐性
1
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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