Congenital progressive hydronephrosis in mice: a new recessive mutation.
We describe a new autosomal recessive mutation, congenital progressive hydronephrosis (cph), that arose in the C57BL/6J inbred mouse strain. The clinical, histopathological, biochemical and radiographic characteristics, and the genetic linkage of this new mutation are discussed. Our studies indicate that the homozygous mutant mice have progressive bilateral upper urinary tract obstruction leading to azotemia and death of renal failure. The anatomical site of obstruction appears to be at the level of the ureteropelvic junction. Genetic mapping studies have localized the cph gene to the distal half of chromosome 15. The cph mouse strain provides a reproducible model for analysis of the onset and development of obstructive uropathic conditions in the neonatal period.
Horton
C E
CE
Department of Surgery, Children's Hospital, Boston, Massachusetts.
Davisson
M T
MT
Jacobs
J B
JB
Bernstein
G T
GT
Retik
A B
AB
Mandell
J
J
D000818:Animals; D001824:Body Constitution; D002874:Chromosome Mapping; D004195:Disease Models, Animal; D005808:Genes, Recessive; D006869:Hydronephrosis / Q000151:congenital / Q000235:genetics / Q000662:veterinary*; D007668:Kidney / Q000000981:diagnostic imaging / Q000473:pathology / Q000648:ultrastructure; D051379:Mice; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains; D008854:Microscopy, Electron; D008855:Microscopy, Electron, Scanning; D009154:Mutation; D012376:Rodent Diseases / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D014567:Urography