Analysis Tools
mortality/aging
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• Background Sensitivity: 65% die within 4 weeks of age on the mixed 129S7/SvEvBrd and C57BL/6J background while a higher rate of lethality is seen on a 129/Sv background
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homeostasis/metabolism
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• develop hyperuricemia, with 10-fold higher levels of serum uric acid levels
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• exhibit moderate azotemia, however do not observe signs of renal insufficiency
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• serum urea nitrogen concentrations at 50-60 days and 9-13 months of age are 1.5- and 2-fold, respectively, higher than in controls
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• mutants as young as 10 to 12 days of age produce copious pale urine
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• urine osmolality is much lower than in controls
• ability to concentrate urine when deprived of water is severely impaired
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• develop hyperuricosuria (10x more urinary uric acid than normal)
(J:16490)
• uric acid/creatine molar ratio in the urine is 30- to 100-fold higher
(J:103187)
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crystalluria
(
J:103187
)
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• crystals appear rapidly as urine cools
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renal/urinary system
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• mutants as young as 10 to 12 days of age produce copious pale urine
|
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• urine osmolality is much lower than in controls
• ability to concentrate urine when deprived of water is severely impaired
|
|
• develop hyperuricosuria (10x more urinary uric acid than normal)
(J:16490)
• uric acid/creatine molar ratio in the urine is 30- to 100-fold higher
(J:103187)
|
crystalluria
(
J:103187
)
|
• crystals appear rapidly as urine cools
|
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• chronic inflammation, characterized by infiltration of plasma cells, lymphocytes, and macrophages, occurs within the interstitium of the kidney
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• exhibit progressive destruction of the kidneys as early as 6 days after birth, showing small cortical cysts and white-yellow deposits (urate crystals) which persist until P14 and then gradually resolve
(J:16490)
• as disease progresses, affected kidneys become smaller, discolored (pale yellow) and soft
(J:16490)
|
kidney cyst
(
J:16490
)
|
• the surface of the kidney becomes irregular with obvious pits and scars and multiple cysts
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• cortical cysts start as dilations within the collecting tubules and extend from the papilla to the corticomedullary junction
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• in both the cortex and medulla, collecting ducts are markedly dilated
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• as obstructive disease progresses, hydronephrotic lesions appear and result in hydronephrosis at 5 weeks
(J:16490)
• exhibit scarred, irregularly shaped, hydronephrotic kidneys
(J:103187)
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small kidney
(
J:16490
)
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• as disease progresses, affected kidneys become smaller
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• glomeruli are associated with foci of tubular atrophy and collapse of the nephron
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• dilation of Bowman's spaces
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• kidneys exhibit tubular atrophy with apparent crowding of glomeruli
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• tubular degeneration and regeneration with dilation of tubules are seen at P8
• exhibit mechanical blockage of renal tubules by urate crystal deposition within tubular lumens
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• kidneys exhibit tubular atrophy
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• dilation of tubules at P8
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renal cast
(
J:16490
)
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• exhibit mechanical blockage of renal tubules by urate crystal deposition within tubular lumens
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pale kidney
(
J:16490
)
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• as disease progresses, affected kidneys become discolored (pale yellow)
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• kidneys exhibit cortical foci of fibrosis
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• bladders of some adults are dilated and contain uric acid stones
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• in some adults
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immune system
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• chronic inflammation, characterized by infiltration of plasma cells, lymphocytes, and macrophages, occurs within the interstitium of the kidney
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behavior/neurological
polydipsia
(
J:103187
)
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• ingest about 5-fold more water
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growth/size/body
kidney cyst
(
J:16490
)
|
• the surface of the kidney becomes irregular with obvious pits and scars and multiple cysts
|
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• cortical cysts start as dilations within the collecting tubules and extend from the papilla to the corticomedullary junction
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| hyperuricemia | DOID:1920 | J:16490 | ||
| nephrogenic diabetes insipidus | DOID:12387 | J:103187 | ||
