A point mutation in exon 5 was introduced to create an Asp214Asn substitution that would render the protein resistant to caspase cleavage. Transient expression of Cre recombinase excised a neo included in the targeting vector. Western blot showed an equal amount of protein in mutant and wild-type fibroblasts, thymocytes and macrophages. A second Western blot analysis confirmed the mutant protein's resistance to caspase cleaveage during apoptosis in thymocytes. The point mutation did not affect protein expression or activity in response to DNA damage. (J:93479)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Nucleotide substitutions
--
1
--
3

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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