These mice carry a targeted mutation with exons 14 through 17 of the Cacna1f (calcium channel, voltage-dependent, alpha 1F subunit) gene deleted. This mutant mouse strain may be useful in studies of calcium channelopathies, incomplete congenital stationary night blindness, photoreceptor electrophysiology, and the role of the Cav1.4 channel in survival of naive T cells.
Marion Maw
Genetic Background | Generation |
---|---|
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Targeted (Null/Knockout) | Cacna1f | calcium channel, voltage-dependent, alpha 1F subunit |
L-type voltage dependent calcium channel activity is one of the primary ways calcium ions enter the cell from the extracellular space and has a critical role in intracellular signaling. The alpha 1F subunit makes up the central pore forming portion of the L-type voltage dependent calcium channel, Cav1.4. Genetic defects in Cav1.4 can cause human incomplete congenital stationary night blindness. Female mice that are homozygous and male mice that are hemizygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. A lower molecular weight gene product (protein) is detected by Western blot analysis of retinal tissue. Immunohistochemical examination of adult retina from homozygotes reveals diminished and diffuse staining for Cacna1s (calcium channel, voltage-dependent, L type, alpha 1S subunit), mGluR6 (glutamate receptor 6), Serca2 (ATPase, Ca++ transporting, cardiac muscle, slow twitch 2), and photoreceptor synapse extracellular matrix component dystroglycan; staining for Vlgr1/Gpr98 (very large G protein-coupled receptor 1/G protein-coupled receptor 98) was mislocated. The Donating Investigator reports that this targeted mutation is a loss of function allele. This strain was generated from breeding (Stock No. 017760) mice to a germ line Cre recombinase expressing strain.
A targeting vector was used to insert a point mutation in exon 17 that results in an amino acid substitution of threonine for isoleucine at position 756, FRT site flanked PGKneo cassette into intron 17, as well as loxP sites into introns 13 and 17. The construct was electroporated into C57BL/6 derived Bruce4 embryonic stem (ES) cells. Correctly targeted ES cells were injected into recipient blastocysts. The resulting chimeric animals were crossed to C57BL/6 mice. The mice were then crossed to Cre recombinase-expressing mice on the C57BL/6 genetic background to remove the selection cassette and exons 14 through 17.
Allele Name | targeted mutation 1.1, Susanne tom Dieck |
---|---|
Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | Cacna1fdeltaEx14-17 |
Gene Symbol and Name | Cacna1f, calcium channel, voltage-dependent, alpha 1F subunit |
Gene Synonym(s) | |
Strain of Origin | B6.Cg-Thy1a |
Chromosome | X |
Molecular Note | Germ line, cre mediated recombination was used to remove exons 14 through 17. Expression of a truncated protein was confirmed by western blot analysis on retinal extracts. |
Mutations Made By | Marion Maw |
When maintaining a live colony, homozygous females may be bred to hemizygous males(mutation is X-linked).
When using the B6.Cg-Cacna1ftm1.1Sdie/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #017761 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous females and wildtype males for Cacna1f<tm1.1Sdie> |
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.