These Ppt1 knock-out mice exhibit progressive hind limb paralysis, reduced body weight, abnormal clasping behavior, and early mortality.
Sandra Hofmann, Center at Dallas
Genetic Background | Generation |
---|---|
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Targeted (Null/Knockout) | Ppt1 | palmitoyl-protein thioesterase 1 |
Mice that are homozygous for the targeted mutation are viable, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (protein) is detected by immunoassay. Palmitoyl-protein thioesterase activity in the brain of the mutant is reduced to background levels. Although healthy at birth, by age four to five months, mutant mice display lack of grooming and an abnormal gait that progresses to hind limb paralysis. By six to eight months of age mutant mice have a low body weight and display an abnormal clasping behavior. Aggressive behavior results in fighting and dermatitis due to bite wounds. By seven months of age, mortality is 50% with very few mice surviving beyond ten months of age. Myoclonic jerks and seizures manifest at age three to four months. Strong rapid hind limb seizures ("popcorn" seizures) that propel mice several feet also occur. Brain size of the mutant mice is reduced. Histologically, mutant brains show neuronal loss and apoptosis in the hippocampus, cerebral cortex and cerebellum. Abundant autofluorescent storage material, termed granular osmiophilic deposits (GROD), seen under electron microscopic examination of mutant mouse brain tissue is indistinguishable from the GROD observed in human infantile neuronal ceroid lipofuscinosis. This mutant mouse strain represents a model that may be useful in studies of neuronal ceroid lipofuscinoses, including infantile Batten disease.
A targeting vector containing neomycin resistance and herpes simplex virus thymidine kinase genes was used to disrupt exon 9 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) |
Allele Synonym(s) | Cln1 mut; PPT1-; PPT1-KO |
Gene Symbol and Name | Ppt1, palmitoyl-protein thioesterase 1 |
Gene Synonym(s) | |
Strain of Origin | 129S6/SvEvTac |
Chromosome | 4 |
Molecular Note | Part of exon 9 was replaced with a neomycin selection cassette containing an in frame stop codon that is predicted to cause premature termination of the protein. Nothern blot analysis on RNA derived from brain and other tissues of heterozygous and homozygous mice demonstrated that a truncated transcript is produced from this allele. However, western blot analysis and activity assays confirmed that no functional protein is expressed from this allele in homozygous mice. |
Mutations Made By | Praveena Gupta |
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 PPT1 KO mouse strain in a publication, please cite the originating article(s) and include JAX stock #004313 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildtype for Ppt1<tm1Hof> |
Frozen Mouse Embryo | B6;129-Ppt1<tm1Hof>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6;129-Ppt1<tm1Hof>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6;129-Ppt1<tm1Hof>/J Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | B6;129-Ppt1<tm1Hof>/J Frozen Embryo | $3373.50 |
Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
What information were you hoping to find through your search?
How easy was it to find what you were looking for?
We may wish to follow up with you. Enter your email if you are happy for us to connect and reachout to you with more questions.
Please Enter a Valid Email Address
Thank you for sharing your feedback! We are working on improving the JAX Mice search. Come back soon for exciting changes.