在第3外显子中,有一个由腺嘌呤替换丝氨酸导致第155位氨基酸变为 alanine( p.S155A)的核苷酸突变。这个突变插入到了定位点。随后,一个由FRT序列引导的诺卡因抗性基因元件被插入到第4内含子。通过 germ-line和Flp介导的重组,去除了neo cassette。这个突变阻止了编码蛋白中第155位残基的磷酸化。(来源:J:133563)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJae
Targeted
Insertion, Nucleotide substitutions
--
1
--
4

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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