将含有R278H变异(CGC替换为CAT)和一个敲除型诺卡因抗性(NeoR)基因的靶向载体插入到该位点。之后,通过Cre介导的重组手段去除了Neo。对胸腺细胞的总提取物进行的 Western-blot 检测显示,突变蛋白的表达水平略低于野生型。(来源:J:157574)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
6
3

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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