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Kmt2atm1.1Mlc
Targeted Allele Detail
Summary
Symbol: Kmt2atm1.1Mlc
Name: lysine (K)-specific methyltransferase 2A; targeted mutation 1.1, Michael L Cleary
MGI ID: MGI:5317820
Synonyms: MLLdC
Gene: Kmt2a  Location: Chr9:44714652-44792594 bp, - strand  Genetic Position: Chr9, 24.84 cM
Alliance: Kmt2atm1.1Mlc page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:183048
Parent Cell Line:  CGR8 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Not Applicable)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsExon 28 was replaced with a modified exon 28 in which nucleotide substitution (GAT to TAA) resulted in the amino acid substitution of a stop codon for aspartic acid at the second processing site. This mutation prevents the expression of the C-terminus subunit. Western blot analysis confirmed the lack of expression of the C-terminal subunit and reduced expression of the N-terminus subunit. Cre-mediated recombination removed the neo cassette. (J:183048)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 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 Kmt2a Mutation:  135 strains or lines available
References
Original:  J:183048 Yokoyama A, et al., Proteolytically cleaved MLL subunits are susceptible to distinct degradation pathways. J Cell Sci. 2011 Jul 1;124(Pt 13):2208-19
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