Mice homozygous for the spontaneous mutation curvy tail (curt) display an S-shaped tail, crooked digits, small body size, "squinty" eyes, hearing loss and premature death. This mutant may be useful in studies of developmental and skeletal abnormalities.
Read More +Genetic Background | Generation |
---|---|
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Spontaneous | Clec16a | C-type lectin domain family 16, member A |
Mice homozygous for the spontaneous mutation curvy tail display an S-shaped tail, crooked digits, small body size, "squinty" eyes, hearing loss, and Purkinje cell degeneration. In heterozygote crosses, the number of homozygous progeny born (17%) does not reach the expected Mendelian ratio with nearly 4% of homozygotes stillborn. Surviving homozygotes die by 3 months of age. Thus, this mutant provides a model for studies in autophagy, mitophagy, and related signal transduction in an array of diseases.
Mice homozygous for the spontaneous mutation curvy tail (curt) were initially described by the deviant phenotypes of an S-shaped tail, crooked digits, small body size, "squinty" eyes and hearing loss. In heterozygote crosses, the number of homozygous progeny born (17%) does not reach the expected Mendelian ratio with nearly 4% of homozygotes stillborn. Surviving homozygotes die by 3 months of age. This mutation was subsequently defined as a 4 base pair deletion in Clec16a exon 21, which results in a frameshift mutation, introduction of novel amino acids, and an early termination codon, with a significant decrease in transcript levels detected. CLEC16A normally has a high level of expression in a broad array of immune cells, particularly B cells, NK cells, and T cells, and in Purkinje cells, neurons of the deep cerebellar nuclei, and activated astrocytes, and has been associated with an array of autoimmune disorders including type 1 diabetes, multiple sclerosis, and adrenal dysfunction in human. CLEC16A is an endosomal protein essential for proper autolysosomal clearance and Redmann et al. found dispersion of the Golgi in cultured cells from Clec16a homozygous null mice. CLEC16A has E3 ubiquitin ligase activity that ubiquitinates NRDP1 and forms a CLEC16A-NRDP1-USP8 mitophagy regulating complex in pancreatic Beta cells (Soleimanpour et al). Disruption of Clec16a has been shown to block diabetes onset in the NOD background (Schuster et al.). Homozygotes for either curt or a targeted null allele have been shown to have a loss of Pukinje cells that is histologically evident by 8 weeks of age. Thus, this mutant provides a model for studies in autophagy, mitophagy, and related signal transduction in an array of diseases.
Allele Name | curvy tail |
---|---|
Allele Type | Spontaneous |
Allele Synonym(s) | |
Gene Symbol and Name | Clec16a, C-type lectin domain family 16, member A |
Gene Synonym(s) | |
Strain of Origin | SWR/J-Clcn1adr-mto/J |
Chromosome | 16 |
Molecular Note | This spontaneous mutation presents as a 4 base pair deletion in exon 21 at chromosome 16 position 10,694,632-635 bp (GRCm38), which results in a frameshift mutation that leads to the introduction of novel amino acids and an early termination codon. Transcript levels of this mutant allele were found to be significantly decreased in homozygous embryonic fibroblasts. |
When using the (C57BL/6J x SWR/J-Clec16acurt/GrsrJ)F1 mouse strain in a publication, please cite the originating article(s) and include JAX stock #017766 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous for curt |
Frozen Mouse Embryo | (C57BL/6J x SWR/J-Clec16a<curt>/GrsrJ)F1 Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | (C57BL/6J x SWR/J-Clec16a<curt>/GrsrJ)F1 Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | (C57BL/6J x SWR/J-Clec16a<curt>/GrsrJ)F1 Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | (C57BL/6J x SWR/J-Clec16a<curt>/GrsrJ)F1 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.