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Kat5tm1Tfaz
Targeted Allele Detail
Summary
Symbol: Kat5tm1Tfaz
Name: K(lysine) acetyltransferase 5; targeted mutation 1, Thomas Fazzio
MGI ID: MGI:6119450
Synonyms: Tip60ci
Gene: Kat5  Location: Chr19:5653042-5660265 bp, - strand  Genetic Position: Chr19, 4.34 cM
Alliance: Kat5tm1Tfaz page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:254332
Parent Cell Line:  E14TG2a (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Modified isoform(s))
Mutation:    Nucleotide substitutions
 
Mutation detailsExon 11 of the gene harbors two substitution mutations (p.Q377E and p.G380E) that eliminate acetyl CoA binding (see PMID:10966108 and PMID:9727487). Based on splice variant 1 ("alpha" - NM_178637.2), at the nucleic acid level, the changes are:
p.Q377E: c.1129C-G, c.1131G-A (CAG - GAG)
p.G380E: c.1139G-A, c.1140C-G (GCC - GAG) (J:254332)
Expression
In Mice Carrying this Mutation: 3 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Kat5 Mutation:  25 strains or lines available
References
Original:  J:254332 Acharya D, et al., KAT-Independent Gene Regulation by Tip60 Promotes ESC Self-Renewal but Not Pluripotency. Cell Rep. 2017 Apr 25;19(4):671-679
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory