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Kdm1atm1.1Tche
Targeted Allele Detail
Summary
Symbol: Kdm1atm1.1Tche
Name: lysine (K)-specific demethylase 1A; targeted mutation 1.1, Taiping Chen
MGI ID: MGI:3834629
Synonyms: Aof22lox
Gene: Kdm1a  Location: Chr4:136277851-136330034 bp, - strand  Genetic Position: Chr4, 68.8 cM
Alliance: Kdm1atm1.1Tche page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:144527
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Conditional ready, Hypomorph)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsGermline, cre mediated recombination was used to remove the beta-geo cassette leaving exons 10 through 13 floxed. Subsequent molecular analysis revealed that two adenine-to-guanine point mutations were inadvertently introduced into the tower domain during the gene targeting process. These resulted in the predicted amino acid changes E413G and M448V in the encoded protein. These residues have been implicated in protein-protein interactions with other regulatory proteins. Microarray and qRT-PCR analysis demonstrated that mRNA levels were decreased by ~50% in E18.5 homozygous hearts, indicating a hypomorphic allele. (J:144527, J:270116)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 3 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Kdm1a Mutation:  39 strains or lines available
References
Original:  J:144527 Wang J, et al., The lysine demethylase LSD1 (KDM1) is required for maintenance of global DNA methylation. Nat Genet. 2009 Jan;41(1):125-9
All:  2 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
11/12/2024
MGI 6.24
The Jackson Laboratory