About   Help   FAQ
Camkmttm1Rpav
Targeted Allele Detail
Summary
Symbol: Camkmttm1Rpav
Name: calmodulin-lysine N-methyltransferase; targeted mutation 1, Ruti Parvari
MGI ID: MGI:5804590
Gene: Camkmt  Location: Chr17:85397989-85766017 bp, + strand  Genetic Position: Chr17, 55.2 cM, cytoband E4
Alliance: Camkmttm1Rpav page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:228818
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1b-m2
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA beta-gal and floxed neomycin resistance cassette replaced the first exon and part of the first intron. This mutation corresponds to the border of the deletion in patients with 2p21 deletion syndrome. Western blot analysis confirmed the absence of protein expression in liver and kidney. (J:228818)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 2 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 Camkmt Mutation:  73 strains or lines available
References
Original:  J:228818 Haziza S, et al., Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. PLoS Genet. 2015 Aug;11(8):e1005388
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/30/2024
MGI 6.23
The Jackson Laboratory