A total of 110 Japanese Black cattle, diagnosed with Claudin-16 (CL-16) deficiency by DNA test between June 1999 and June 2001, were studied. The ages of affected cattle ranged from 1 to 60 months (mean±SD. 13.3± 8.9). There were 48 males (44%) and 62 females including 3 dams (56%). All but one dam were carriers of CL-16 deficiency. The non-carrier dam, diagnosed by DNA test, had a new type null mutation of CL-16 (Type 2). At birth, affected calves usually appeared healthy, although almost all showed signs of growth retardation and anorexia in the last stage of this disease, and in 67% hoof growth was observed. In blood and serum biochemical tests, affected cattle had high serum concentrations of urea nitrogen, creatinine, and inorganic phosphorus, but low calcium concentrations. The kidneys were atrophic and tough, and pathological findings showed renal tubular dysplasia, interstitial fibrosis, and degeneration of uriniferous tubular epithelium. Immuno-histopathological studies by ABC stain, using the specific CL-16 antibody for the first antibidy, revealed that CL-16 was observed in the uriniferous tubular epithelium of normal cattle, but not in affected cattle. Dams investigated in one Yamagata prefecture district, showed putative genotype carriers frequencies of 7.5%, and semen utilization of carrier sires as high as 44% (1999), therefore occurrence rate of affected calves in this area was estimated at 0.8% .
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