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An arginine to proline substitution was generated at codon 172 by an engineered point mutation introduced at coding nucleotide 515 (c.515G>C). p.R172P, equivalent to p.R175P in humans, is associated with human tumors defective in apoptosis. A single loxP site was left in intron 4 after the excision of a loxP site flanked neomycin resistance gene cassette via Cre-mediated recombination. Western blot analysis of homozygous MEFs detected full length protein at levels that exceeded those of full length protein in wild-type MEFs. (J:87501)
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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References Literature
Title
PMID
Journal
Year
IF
