Acetyltransferase (AT) activity was ablated via the incorporation of engineered point mutations at the endogenous locus. The mutations substitute alanine and serine for tryptophan and tyrosine (WY(1503-1504)AS). A single loxP site remained in the intron preceding the missense mutations after the excision of floxed neo cassette used for selection. Western blot analysis indicated mutant protein was expressed at wild-type levels. (J:85950)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Nucleotide substitutions
Dominant
1
13
2

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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