A C to T mutation resulting in a histidine to tyrosine substitution at codon 355 (H355Y) was introduced in exon 5 and a floxed hygromycin/thymidine kinase fusion gene with splice acceptor and donor sequences was inserted upstream of exon 5 via homologous recombination. Cre mediated recombination removed the hygromycin/thymidine kinase fusion gene. The mutant protein is expressed at levels similar to the wild-type protein. The mutant protein lacks acetylation activity in MEFs. (J:180628)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion
--
1
--
10

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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