These mice carry a spontaneous mutation at the Otc locus characterized by coat and skin abnormalities. With higher residual enzyme activity these mice have normal plasma ammonia and plasma orotic acid at baseline and mild amino acid perturbations.
Read More +Genetic Background | Generation |
---|---|
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Spontaneous (Hypomorph) | Otc | ornithine transcarbamylase |
The transversion in exon 3 of ornithine transcarbamylase in Otcspf-J mice leads to normal levels of mRNA with low levels of mature protein. With higher residual enzyme activity, Otcspf-J mice were found to have normal plasma ammonia and orotate. Baseline plasma amino acid profiles were consistent with mild OTCD: elevated glutamine, and lower citrulline and arginine. In contrast to wild type, Otcspf-J mice displayed baseline elevations in cerebral amino acids with depletion following immune challenge with polyinosinic:polycytidylic acid. These mice may be suitable for mechanistic studies of mild OTCD and the exploration of cerebral pathophysiology during acute decompensation that characterizes proximal urea cycle dysfunction in humans.
Allele Name | sparse fur Jackson |
---|---|
Allele Type | Spontaneous (Hypomorph) |
Allele Synonym(s) | |
Gene Symbol and Name | Otc, ornithine transcarbamylase |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J |
Chromosome | X |
Molecular Note | This allele was identified from the results of a noncomplementation test with Otcspf. A missense mutation was identified, with a c.240A>T transversion in exon 3, leading to a lysine to asparagine substitution (p.K80N). The K80 residue is located outside the carbamoyl phosphate and ornithine binding regions. qRT-PCR confirmed similar levels of hepatic mRNA in heterozygous females and hemizygous males as in wild-type mice, while Western blot showed drastically reduced hepatic protein levels. Otc enzyme activity is 10-12% of wild-type levels. |
Comments: Hemizygous males may be too small to wean at 3 weeks of age and may need to be weaned at 4 weeks instead.
When using the sparse fur Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #001672 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
X linked - Heterozygous females and Wild-type males Otc<spf-J |
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.