These Ppt2 knock-out mice exhibit abnormal clasping behavior, spasticity, hair loss, skin lesions, and reduced survival.
Sandra Hofmann, Center at Dallas
Mice that are homozygous for the targeted mutation are viable and fertile. No palmitoyl-protein thioesterase 2 protein is detected by immunoblot. Mutant mice are healthy at birth, but 50% develop abnormal clasping behavior by 8 months of age. Spasticity, hair loss and skin lesions are exhibited at 10 months of age. These mutant mice have a reduced survival of 80% at 10 months. Increased autofluorescent storage material is found in the brain in the pontine region, cerebral cortex, hippocampus and pons. Gross pathological and histological examination revealed no abnormalities in the brain of mutant mice at 10 months of age. Donating Investigator reports the skin lesions and dermatitis that occur may be due to excessive grooming behavior. This mutant mouse strain represents a model that may be useful in studies of neuronal ceroid lipofuscinoses.
A targeting vector containing neomycin resistance and herpes simplex virus thymidine kinase genes was used to disrupt exon 3 of the targeted gene. The construct was electroporated into 129S6/SvEvTac derived SM1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J blastocysts. The resulting male chimeric animals were backcrossed to C57BL/6J mice.
|Allele Name||targeted mutation 1, Sandra L Hoffmann|
|Allele Type||Targeted (Null/Knockout)|
|Gene Symbol and Name||Ppt2, palmitoyl-protein thioesterase 2|
|Strain of Origin||129S6/SvEvTac|
|Molecular Note||A loxP-flanked neomycin selection cassette was inserted into exon 3 of the gene. Northern blot analysis on RNA derived from kidney and brain of homozygous mice demonstrated that no detectable transcript was produced from this allele. Western blot analysis on extracts prepared from kidney of homozygous mice confirmed that no protein was expressed from this allele.|
|Mutations Made By|| |
This strain originated on a 129S6 background. Heterozygotes were bred to C57BL/6 mice and then intercrossed to produce homozygotes. The strain is maintained on a B6;129S6 background.
When using the PPT2 KO mouse strain in a publication, please cite the originating article(s) and include JAX stock #004314 in your Materials and Methods section.