一个1.2千碱基的诺卡因载体替换了基因exon 12中的129bp,这破坏了蛋白的钙调素结合位点,并在转录本中引入了一个早停密码子。对纯合突变小鼠心和肾组织的免疫组化结果显示,编码蛋白无法检测到。(来源:J:36559)

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
5
430

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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