These mice carry a spontaneous mutation at the Pdss2 locus characterized by autoimmune nephrosis.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Pdss2 | prenyl (solanesyl) diphosphate synthase, subunit 2 |
Mice homozygous for the kidney disease spontaneous mutation (Pdss2kd) develop autoimmune nephrosis recognizable at about 10 weeks of age by increased proteinuria and followed by excessive drinking, loss of weight, anemia, and death usually by 5 to 7 months. The process is mediated by an antigen-specific, H2k-restricted effector cell. The phenotype resembles human nephronophthisis.
The kidney disease mutation arose spontaneously in the CBA/H strain.
Allele Name | kidney disease |
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Allele Type | Spontaneous |
Allele Synonym(s) | kd |
Gene Symbol and Name | Pdss2, prenyl (solanesyl) diphosphate synthase, subunit 2 |
Gene Synonym(s) | |
Strain of Origin | CBA/H |
Chromosome | 10 |
General Note | Phenotypic Similarity to Human Syndrome: Collapsing glomerulopathy (J:170955). |
Molecular Note | A G-to-A transition mutation occured in codon 117 resulting in a valine to methionine substitution in the encoded protein (p.V117M). The mutation is contained in both alternative splice products. |
When using the kidney disease mouse strain in a publication, please cite the originating article(s) and include JAX stock #000574 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildtype for Pdss2<kd> |
Frozen Mouse Embryo | CBA-Pdss2<kd>/J Frozen Embryos | $2595.00 |
Frozen Mouse Embryo | CBA-Pdss2<kd>/J Frozen Embryos | $2595.00 |
Frozen Mouse Embryo | CBA-Pdss2<kd>/J Frozen Embryos | $3373.50 |
Frozen Mouse Embryo | CBA-Pdss2<kd>/J Frozen Embryos | $3373.50 |
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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.
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