基因的第13外显子被一个突变的外显子替换,其中赖氨酸975的密码子被修改为编码异亮氨酸。插入了一个FRT引导的puromycin抗性元件,紧邻在突变位置。通过Flp介导的重组,移除了puromycin抗性元件,使得第13和14外显子之间仅剩一个FRT座。这个等位基因产生了一个缺失最后41个氨基酸的截短蛋白,且失去了核酸酶活性。(来源:J:229449)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Nucleotide substitutions
--
1
2
2

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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