在exon 3的开放编码区,替换为Tex11的开放阅读框,通过一个由T到C的点突变,导致第479位的氨基酸从 alanine 变成了 valine(V749A)。这种突变与人类无生育能力男性的相关变异一致。随后,Cre介导的重组移除了下游插入表达序列后插入的筛选元件。(来源:J:229429)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6 x 129S4/SvJae)F1
Targeted
Insertion, Intragenic deletion, Single point
--
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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