Camkmt^tm1Rpav
Targeted Allele Detail

Summary

• Symbol: Camkmt^tm1Rpav
• 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: Camkmt^tm1Rpav page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:228818
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A 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)

Disease models

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: 74 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)