第六外显子被修改后的一个带有点突变(替换为AAG为AGG)的假基因第六外显子所取代,导致在第289位氨基酸位置由赖氨酸替换为arginine(即K289R)。此外,还插入了一个floxed neo cassette。通过Cre介导的重组,neo cassette被去除了。这种突变消除了Nr5a2的SUMO化。(来源:J:215556)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6N
Targeted
Insertion, Single point
--
1
--
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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