在6b外显子捐赠位点下游四个核苷酸处的A到T转换。这种突变很可能足以消除正常剪接,导致剪接缺失,产生缺少6a/6b外显子的mRNA。(来源:J:21366, J:62098)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6Bn
Spontaneous
单点
隐性
1
16
12

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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