在exon 10的第573位,酪氨酸(TAC)被替换为天冬氨酸(GAC),导致等位基因p.Y573D。随后插入了含loxP序列的诺卡因抗性基因座到第9号内含子中。通过Cre介导的重组,去除了这个neo cassette。这种突变使得编码肽的细胞质尾部从可磷酸化的位点变成了磷酷类似物(J:305628)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Single point
--
1
2
1

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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