Trisomy 8 and urogenital malformation in the ACI-rat

ACI-rats are considered as a model for studying urogenital abnormalities. In order to recognise cytogenetic changes related to these abnormalities 50 male ACI/Seg rats were examined by means of gross macroscopic, histological, and karyotypical investigations. In six of the examined animals (12%) unilateral agenesis of the kidney and ipsilateral hypoplasia of the testes and seminal vesicles were observed. Isochromosome 8 and trisomy 8 (i8, +8) were observed in 26.5% of karyotypes from the animals with kidney agenesis. Chromosome heteromorphisms such as 1p+, 3p+, 11p+, 12p+ were found in animals with and without apparent pathology. Because of the similarity between the phenotypical changes found in ACI-rats and in patients with familial renal agenesis (Potter's syndrome) and hereditary renal agenesis and aplasia (HRA), rat and human chromosomes associated with manifested renal malformations were examined by comparative cytogenetics and gene mapping.