从4到9号外显子被相应的人类基因中带有4号外显子序列变异,导致第72位氨基酸变为脯氨酸的版本替换。用于选择的floxed neo cassette通过Cre介导的重组被去除了。这个突变对应于非北欧血统人群中常见的等位基因。(来源:J:135505)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
插入,基因内删除
--
1
65
7

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
No Data Found!
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