Mouse Genome Informatics
hm
    Aqp2cph/Aqp2cph
C57BL/6J-Aqp2cph
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Small size and congenital obstruction in Aqp2cph/Aqp2cph mice

mortality/aging
• most die by 1 to 2 months of age but a few survive to adulthood and can breed (J:9451)
• few live beyond 2 months of age (J:13746)
• 90% die between 2 to 4 weeks of age while the remaining 10% survive past weaning with the oldest reaching 10 months of age (J:109463)

renal/urinary system
• fail to concentrate urine in response to [deamino-Cys1, D-Arg8]-vasopressin treatment; however, there is no significant difference in the excretion of Na and K as indicated by urinary sodium creatinine and potassium/creatinine ratios
• by 2 weeks of age urine is colorless
• at P10, focal loss of the parenchyma is seen (J:9451)
• pathological changes related to obstructive nephropathy (J:109463)
• parenchymal atrophy
• at P10, partial erosion of the pyramids is seen
• by P20 medullary tissue is generally absent except at the base of the papillae and a thin rim of focal remnants surrounding the enlarged caliceal space
• expansion of the pelvicocaliceal space
• erosion probably the result of obstructive nephropathy
• at P1, slight erosion of the renal papillae is seen with the average diameter reduced to 0.32 mm compared to 0.45 mm in control mice
• as mice age a progressive narrowing of the papillar diameter is seen
• starting at P1, progressive widening of the calyceal space and narrowing of the papillar diameter is seen
• by 20 days of age in most mice both kidneys are massively enlarged and appear as tense, fluid-filled shells with cortical and medullary wasting (J:9451)
• mice under 14 days of age show unilateral or bilateral hydronephrosis while almost all mice older than 14 days show severe bilateral hydronephrosis (J:109463)
• about 66% of mice have more severe defects in the right kidney, about 23% have more defects in the left kidney and 11% have both kidneys equally affected (J:109463)
• however, in most cases there does not appear to be a physical blockage of urine transport (J:109463)
• hydroureter and an apparent obstruction of the ureterovesical junction are seen in only about 25% of mice
• hydroureter and an apparent obstruction of the ureterovesical junction are seen in only about 25% of mice

homeostasis/metabolism
• elevated serum osmolality
• fail to concentrate urine in response to [deamino-Cys1, D-Arg8]-vasopressin treatment; however, there is no significant difference in the excretion of Na and K as indicated by urinary sodium creatinine and potassium/creatinine ratios
• by 2 weeks of age urine is colorless

behavior/neurological
• by 2 weeks of age (J:9451)

growth/size
• visible almost from birth (J:13746)
• by P8 (J:109463)
• at 15 days of age average weight is 4.10 g compared to 7.25 g for control littermates (J:9451)
• at 20 days of age average weight is 4.98 g compared to 12.51 g for control littermates (J:9451)
• by P8 (J:109463)
• enlarged abdomen at 2 weeks of age (J:13746)

reproductive system
• adults are either infertile or show mildly reduced fertility
• adults are either infertile or show mildly reduced fertility

integument
• by 2 weeks of age

Mouse Models of Human Disease
OMIM IDRef(s)
Diabetes Insipidus, Nephrogenic, Autosomal 125800 J:109463