This strain is homozygous for the Pemttm1J targeted mutation
Mice homozygous for the tiny wasting mutation are runted and some have abnormal locomotion or are unable to right themselves. Mutants can be identified by 2 weeks of age and most die by 3 weeks of age. All have vacuoles in the brain.
The tiny wasting mutation arose spontaneously in 1997 in the B6;129P2-Pemptm1J/J strain at The Jackson Laboratory and has been maintained on this background primarily through sibling mating heterozygous males with hosts of homozygous ovarian transplants. In 2006 embryos were cryopreserved from B6;129S1 females and generation F26 males that were homozygous for the targeted mutation and heterozygous for tiny wasting.
|Allele Name||targeted mutation 1, Jackson|
|Allele Type||Targeted (Null/Knockout)|
|Allele Synonym(s)||Pempt2-; Pemt-|
|Gene Symbol and Name||Pemt, phosphatidylethanolamine N-methyltransferase|
|Strain of Origin||129P2/OlaHsd|
|Molecular Note||A PGK neomycin cassette replaces the majority of exon 2, including the translation start site and the extreme 5' end of the intron. Lack of protein in homozygous mutant mice was demonstrated by immunoblot assays on liver homogenates, using a rat antibody from the C terminal end of the protein. Enzymatic activity was also abolished in homozygous mutant animals.|
|Mutations Made By|| |
Dr. Dennis Vance, University of Alberta