在第11外显子的核苷酸替换(T变为G)导致编码蛋白质的第679位丝氨酸被甘氨酸替代(等位基因p.T697G)。这种变异产生了对PP1类似物敏感的蛋白质。通过Cre介导的重组,去除了插入在第11内含子中的含loxP序列的氨苄西林抗性基因元件。(来源:197489)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJae
Targeted
单点
--
1
--
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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