Mapping of mouse alpha 1(XIII) collagen to chromosome 10 and its exclusion as a kd candidate gene.

Abstract

The kidney disease (kd) mutation arose spontaneously in the CBA/CaH inbred mouse strain and is transmitted as an autosomal recessive trait (Lyon and Hulse, 1971). CBA/CaH-kd/kd mice die at 5 to 7 months with inanition, a urinary concentrating defect, and uremia. Affected homozygotes spontaneously develop a chronic and progressive renal interstitial disease. The characteristic histopathologic lesion develops in the cortex between 10 and 14 weeks of age and consists of cystic tubular dilatation with focal peritubular mononuclear cell infiltrates (Smoyer and Kelly, 1994). Given the similarities in renal histopathology, the kd mouse has been proposed as a model for familial juvenile nephronophthisis [NPH; OMIM No. 256100] (Lyon and Hulse, 1971). Immunologic studies have indicated that the tubulointerstitial nephritis in kd/kd mice is initiated by a population of pathogenic CD8 T cells, which target as yet undefined renal tubular epithelial antigen(s) (Kelly et al., 1986). Disease progression is apparently mediated by a complex interplay between suppressor and contrasuppressor T cells (Neilson et al., 1984; Kelly and Neilson, 1987). Furthermore, we have demonstrated that the interstitial nephritis in kd/kd mice is characterized by prominent macrophage infiltration and