mortality/aging
• mice can survive to adulthood, but ~40% die around weaning
• at weaning, mice given single dose of sterile water show increased survival; all injected mice survive 6 months and beyond
|
growth/size/body
behavior/neurological
polydipsia
(
J:121445
)
• water consumption is 3-fold higher than controls
|
renal/urinary system
• in response to desmopressin, mutants are resistant compared to wild-type mice which show a reduction in urine volume and increase in urine osmolality at 4 weeks
|
• osmolality is 193 mosmol/kg H2O vs 1093 in wild-type or 1275 mosmol/kg H20 in heterozygotes at 4 weeks
|
• papilla displays atrophy at 4 weeks
|
• kidneys show enlargement due to hydronephrosis in 4 week-old mice
|
• urine output in 12 hours is significantly increased relative to wild-type
• at 8 weeks of age, urine output is ~2 times that at of mice at 4 weeks of age, when normalized for body weight, but osmolality is relatively unchanged at the 2 timepoints
|
homeostasis/metabolism
• BUN level is elevated significantly at 4 weeks relative to heterozygous or wild-type mice
|
dehydration
(
J:121445
)
• likely cause of observed mortality
|
• in response to desmopressin, mutants are resistant compared to wild-type mice which show a reduction in urine volume and increase in urine osmolality at 4 weeks
|
• osmolality is 193 mosmol/kg H2O vs 1093 in wild-type or 1275 mosmol/kg H20 in heterozygotes at 4 weeks
|
hematopoietic system
reproductive system
N |
• males and females are fertile
|
integument
• mice have dry fur
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
nephrogenic diabetes insipidus | DOID:12387 | J:121445 |