将人类的整个cystatin C基因,其中第68位的亮氨酸替换为谷氨酰胺(L68Q)的单点突变,这个突变发生在exon 2(不包括人类的启动子),被插入到小鼠cystatin C基因的启动子下游。ELISA检测证实了人体蛋白存在于附睾腔液中,脑和睾丸的匀浆也通过 Western blot 验证了在附睾腔液中的表达。(来源:J:210672)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
插入
--
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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