Homozygous mutant mice have progressive bilateral upper urinary tract obstruction leading to azotemia and death of renal failure. They usually live 2-4 weeks although some may live longer and may breed. The anatomical site of obstruction appears to be at the level of the ureteropelvic junction. The cph mouse strain provides a reproducible model for analysis of the onset and development of obstructive uropathic conditions in the neonatal period.
The Aqp2cph mutation (initially called jpk) arose spontaneously at The Jackson Laboratory in 1973 on the C57BL/6J background, which was then at F131. Aqp2cph has been maintained on the C57BL/6J background primarily through backcross-intercross breeding. In approximately 1987 C57BL/6J females were bred with homozygous males at F131+N8F1 to generate embryos for cryopreservation.
|Allele Name||congenital progressive hydronephrosis|
|Allele Synonym(s)||cph; jpk|
|Gene Symbol and Name||Aqp2, aquaporin 2|
|Strain of Origin||C57BL/6J|
|General Note||Phenotypic Similarity to Human Syndrome: Congenital Obstructive Nephropathy (J:109463)|
|Molecular Note||A mutation occurred in exon 4 converting the C at coding nucleotide 767 into a T (c.767C>T), resulting in a serine to leucine substitution (p.S256L). Apical accumulation of the protein is lost in the renal collecting ducts of homozygotes.|
When using the congenital progressive hydronephrosis mouse strain in a publication, please cite the originating article(s) and include JAX stock #000530 in your Materials and Methods section.