Mice homozygous for this knock-out mutation demonstrate defective catabolism of fatty acids and have a pronounced accumulation of phytanic acid.
Dr. Udo Seedorf, of Arteriosclerosis Research
Genetic Background | Generation |
---|---|
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Targeted (Null/Knockout) | Scp2 | sterol carrier protein 2, liver |
Mice homozygous for this targeted mutation are viable and fertile and do not display any gross physical or behavioral abnormalities. No protein product from the targeted gene is detected in liver tissue. Northern blot experiments show a low-intensity signal from a non-functional truncated transcript, however. Histologically, greater numbers of peroxisomes are observed in the livers of these mice. Liver function appears normal based on liver enzyme levels, but cholesterol and triglyceride storage pools are depleted. Hepatic gene expression is altered. Higher expression levels of liver fatty acid binding protein and multiple peroxisomal beta-oxidation enzymes are observed. Whereas plasma insulin and cholesterol concentrations are normal, triglycerides are slightly higher and free fatty acid and glucose concentrations are moderately lower in homozygous mice. Food intake is significantly higher in homozygotes as compared to control animals. A pronounced accumulation of phytanic acid is observed in homozygotes. Diets supplemented with 5 mg/g phytol (a metabolic precursor of branched-chain fatty acids) cause weight loss, decreased lipid and glucose levels in serum, liver disease, ataxia, peripheral neuropathy, and sudden cardiac death in the mice. These mice demonstrate defective catabolism of branched-chain fatty acids and altered bile acid synthesis due to impaired peroxisomal beta-oxidation.
A targeting vector containing a neomycin resistance gene was used to replace exon 14 of the gene. The construct was electroporated into 129P2/OlaHsd-derived E14 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts. Chimeric animals were crossed with C57BL/6 for at least ten generations before the line was made homozygous for the mutation.
Allele Name | targeted mutation 1, Udo Seedorf |
---|---|
Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | Scp2 - |
Gene Symbol and Name | Scp2, sterol carrier protein 2, liver |
Gene Synonym(s) | |
Strain of Origin | 129P2/OlaHsd |
Chromosome | 4 |
Molecular Note | Exon 14 was disrupted by the insertion of a neomycin cassette. Sequence analysis of truncated transcript identified by Northern analysis, showed that an aberrant splice pattern resulted in the excision of exon 14. The joining of exons 13 and 15 resulted in a frameshift mutation which introduced a stop codon in exon 15, upstream of an essential peroxisomal targeting signal. Western analysis revealed an absence of normal protein in the livers of homozygous mutant mice. |
Mutations Made By | Dr. Udo Seedorf, of Arteriosclerosis Research |
When maintained as a live colony, homozygous mice may be bred together.
When using the Scp2- mouse strain in a publication, please cite the originating article(s) and include JAX stock #006620 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous for Scp2<tm1Usee> |
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.