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Aspartic acid to alanine (D879A) and glycine to glutamic acid (G880E) mutations were introduced into the caspase cleavage site of exon 25 and a diagnostic EcoRI site was introduced into intron 24 via homologous recombination. A floxed neo cassette was also inserted into intron 25. Correctly targeted ES cells subjected to caspase activation did not show diminishment of Rb protein, thus confirming the mutation to the caspase cleavage site. (J:80087)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
