CBA-Pdss2^kd/J

Stock number: 000574
Product name: kidney disease
Research areas: Immunology, Inflammation and Autoimmunity Research, Internal/Organ Research

Description

These mice carry a spontaneous mutation at the Pdss2 locus characterized by autoimmune nephrosis.

Detailed description

Mice homozygous for the kidney disease spontaneous mutation (Pdss2^kd) 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, H2^k-restricted effector cell. The phenotype resembles human nephronophthisis.

Development

The kidney disease mutation arose spontaneously in the CBA/H strain.

Allele

Symbol: Pdss2^kd
Name: kidney disease
MGI accession ID: MGI:1856927
Generation method: Spontaneous
Synonyms: kd
Marker symbol: Pdss2
Marker name: prenyl (solanesyl) diphosphate synthase, subunit 2
Marker synonyms: 5430420P03Rik; bA59I9.3; C6orf210; COQ10D3; COQ1B; DLP1; hDLP1; kd; mDLP1; PLMP
Chromosome: 10
Strain of origin: CBA/H
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.
General note: Phenotypic Similarity to Human Syndrome: Collapsing glomerulopathy (J:170955).