在第40位的谷氨酸被一个G变A的转换改成了赖氨酸(E40K)。为了定位目的,包含了一个floxed neo cassette,之后通过Cre重组酶在ES细胞中表达被移除。在纯合子肝和肾中,突变基因的表达水平与RT-PCR分析中测定的内源性水平相似。(来源:J:149912)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S5/SvEvBrd
Targeted
核苷酸替换
--
1
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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