This model of familial tumoral calcinosis carries a Galnt3 knockout allele which is associated with hyperphosphatemia and low levels of intact FGF23. Mice develop ectopic calcification on a high phosphate diet.
Michael J. Econs, Indiana University School of Medicine
Genetic Background | Generation |
---|---|
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Targeted (Null/Knockout) | Galnt3 | polypeptide N-acetylgalactosaminyltransferase 3 |
Familial tumoral calcinosis is characterized by ectopic calcifications and hyperphosphatemia. The disease is caused by inactivating mutations in fibroblast growth factor 23 (FGF23), klotho (KL), and uridine diphosphate-N-acetyl-α-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3).
Exons 2 and 3 of the mouse Galnt3 gene were deleted in this targeted knockout allele. The absence of protein expression was confirmed by western blot analysis on kidney extracts.
Mice lacking the protein develop hyperphosphatemia without apparent calcifications. Fgf23 expression is increased in bone of homozygous mice. Compared with wild-type and heterozygous littermates, homozygous mice have only about half of circulating intact FGF23 protein levels and higher levels of C-terminal fragments in bone. Galnt3-deficient mice also exhibited an inappropriately normal 1,25-dihydroxyvitamin D level and decreased alkaline phosphatase activity. Ectopic calcification develops on high phosphate diet.
Renal expression of sodium-phosphate cotransporters and K1 are elevated in
Galnt3-deficient mice. Galnt3-deficient males show infertility on the backcrossed C57BL/6 background. Both males and females show increased bone mineral density.
Exons 2 and 3 were replaced with a loxP-flanked neomycin cassette via homologous recombination in 129S/SvEv-derived embryonic stem (ES) cells. Resultant mice were crossed with EIIa-cre recombinase-expressing mice (see Stock No. 003724) to excise the neomycin cassette, then backcrossed to C57BL/6J for 8 generations by the donating lab.
Allele Name | targeted mutation 1, Michael J Econs |
---|---|
Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | |
Gene Symbol and Name | Galnt3, polypeptide N-acetylgalactosaminyltransferase 3 |
Gene Synonym(s) | |
Strain of Origin | 129S/SvEv |
Chromosome | 2 |
Molecular Note | Exons 2 and 3 were replaced with an loxP-flanked neo cassette. Cre-mediated recombination removed the neo cassette. The absence of protein expression was confirmed by western blot analysis on kidney extracts. |
Heterozygous males and females and homozygous females are viable and fertile. Homozygous males show growth retardation and infertility.
When using the Galnt3 deficient mouse strain in a publication, please cite the originating article(s) and include JAX stock #028318 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildtype for Galnt3<tm1Mjec> |
Frozen Mouse Embryo | B6.129S(Cg)-Galnt3<tm1Mjec>/J | $2595.00 |
Frozen Mouse Embryo | B6.129S(Cg)-Galnt3<tm1Mjec>/J | $2595.00 |
Frozen Mouse Embryo | B6.129S(Cg)-Galnt3<tm1Mjec>/J | $3373.50 |
Frozen Mouse Embryo | B6.129S(Cg)-Galnt3<tm1Mjec>/J | $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.