在第13外显子引入了核苷酸变异,导致编码肽的钩部区域发生了一个氨基酸替换(p.V683R)。在第13内含子插入了含loxP序列的抗氨苄青霉素基因座。这个氨基酸替换在靠近参与锌配位的 cysteines 附近的区域引入了带电残基,产生了表型异常的等位基因。(来源:J:209141)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129/Sv
Targeted
Insertion, Nucleotide substitutions
显性
1
2
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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