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|
|Gene Symbol and Name||Pdss2, prenyl (solanesyl) diphosphate synthase, subunit 2|
|Strain of Origin||CBA/H|
|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.