在exon 25的 caspase切割位点插入了天冬氨酸到异亮氨酸(D879A)和甘氨酸到谷氨酸(G880E)的突变,并通过同源重组在内含子24中引入了诊断用的EcoRI酶切位点。同时,内含子25中插入了可删除的neo cassette。经过正确靶向的ES细胞在激活caspase后,Rb蛋白水平并未下降,这证实了突变发生在caspase切割位点。(来源:J:80087)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
14
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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