About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3687865
Allelic
Composition
Uoxtm1Bay/Uoxtm1Bay
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Uoxtm1Bay mutation (1 available); any Uox mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Pathology of urate neophropathy in Uoxtm1Bay/Uoxtm1Bay mice

mortality/aging
• 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 (J:16490)
• 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 (J:16490)

homeostasis/metabolism
• develop hyperuricemia, with 10-fold higher levels of serum uric acid levels (J:16490)
• develop hyperuricemia, with 10-fold higher levels of serum uric acid levels (J:16490)
• exhibit moderate azotemia, however do not observe signs of renal insufficiency (J:103187)
• exhibit moderate azotemia, however do not observe signs of renal insufficiency (J:103187)
• 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 (J:103187)
• 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 (J:103187)
• mutants as young as 10 to 12 days of age produce copious pale urine (J:103187)
• mutants as young as 10 to 12 days of age produce copious pale urine (J:103187)
• urine osmolality is much lower than in controls (J:103187)
• ability to concentrate urine when deprived of water is severely impaired (J:103187)
• urine osmolality is much lower than in controls (J:103187)
• ability to concentrate urine when deprived of water is severely impaired (J:103187)
• develop hyperuricosuria (10x more urinary uric acid than normal) (J:16490)
• 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)
• uric acid/creatine molar ratio in the urine is 30- to 100-fold higher (J:103187)
• crystals appear rapidly as urine cools (J:103187)
• crystals appear rapidly as urine cools (J:103187)

renal/urinary system
• mutants as young as 10 to 12 days of age produce copious pale urine (J:103187)
• mutants as young as 10 to 12 days of age produce copious pale urine (J:103187)
• urine osmolality is much lower than in controls (J:103187)
• ability to concentrate urine when deprived of water is severely impaired (J:103187)
• urine osmolality is much lower than in controls (J:103187)
• ability to concentrate urine when deprived of water is severely impaired (J:103187)
• develop hyperuricosuria (10x more urinary uric acid than normal) (J:16490)
• 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)
• uric acid/creatine molar ratio in the urine is 30- to 100-fold higher (J:103187)
• crystals appear rapidly as urine cools (J:103187)
• crystals appear rapidly as urine cools (J:103187)
• chronic inflammation, characterized by infiltration of plasma cells, lymphocytes, and macrophages, occurs within the interstitium of the kidney (J:16490)
• chronic inflammation, characterized by infiltration of plasma cells, lymphocytes, and macrophages, occurs within the interstitium of the kidney (J:16490)
• 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)
• 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)
• in both the cortex and medulla, collecting ducts are markedly dilated (J:103187)
• in both the cortex and medulla, collecting ducts are markedly dilated (J:103187)
• as obstructive disease progresses, hydronephrotic lesions appear and result in hydronephrosis at 5 weeks (J:16490)
• as obstructive disease progresses, hydronephrotic lesions appear and result in hydronephrosis at 5 weeks (J:16490)
• exhibit scarred, irregularly shaped, hydronephrotic kidneys (J:103187)
• exhibit scarred, irregularly shaped, hydronephrotic kidneys (J:103187)
• as disease progresses, affected kidneys become smaller (J:16490)
• as disease progresses, affected kidneys become smaller (J:16490)
• glomeruli are associated with foci of tubular atrophy and collapse of the nephron (J:16490)
• glomeruli are associated with foci of tubular atrophy and collapse of the nephron (J:16490)
• dilation of Bowman's spaces (J:16490)
• dilation of Bowman's spaces (J:16490)
• kidneys exhibit tubular atrophy with apparent crowding of glomeruli (J:103187)
• kidneys exhibit tubular atrophy with apparent crowding of glomeruli (J:103187)
• tubular degeneration and regeneration with dilation of tubules are seen at P8 (J:16490)
• exhibit mechanical blockage of renal tubules by urate crystal deposition within tubular lumens (J:16490)
• tubular degeneration and regeneration with dilation of tubules are seen at P8 (J:16490)
• exhibit mechanical blockage of renal tubules by urate crystal deposition within tubular lumens (J:16490)
• kidneys exhibit tubular atrophy (J:103187)
• kidneys exhibit tubular atrophy (J:103187)
• dilation of tubules at P8 (J:16490)
• dilation of tubules at P8 (J:16490)
• exhibit mechanical blockage of renal tubules by urate crystal deposition within tubular lumens (J:16490)
• exhibit mechanical blockage of renal tubules by urate crystal deposition within tubular lumens (J:16490)
• the surface of the kidney becomes irregular with obvious pits and scars and multiple cysts (J:16490)
• the surface of the kidney becomes irregular with obvious pits and scars and multiple cysts (J:16490)
• cortical cysts start as dilations within the collecting tubules and extend from the papilla to the corticomedullary junction (J:16490)
• cortical cysts start as dilations within the collecting tubules and extend from the papilla to the corticomedullary junction (J:16490)
• as disease progresses, affected kidneys become discolored (pale yellow) (J:16490)
• as disease progresses, affected kidneys become discolored (pale yellow) (J:16490)
• kidneys exhibit cortical foci of fibrosis (J:103187)
• kidneys exhibit cortical foci of fibrosis (J:103187)
• bladders of some adults are dilated and contain uric acid stones (J:103187)
• bladders of some adults are dilated and contain uric acid stones (J:103187)
• in some adults (J:103187)
• in some adults (J:103187)
• exhibit about 6-fold more urine output (J:103187)
• exhibit about 6-fold more urine output (J:103187)

immune system
• chronic inflammation, characterized by infiltration of plasma cells, lymphocytes, and macrophages, occurs within the interstitium of the kidney (J:16490)
• chronic inflammation, characterized by infiltration of plasma cells, lymphocytes, and macrophages, occurs within the interstitium of the kidney (J:16490)

behavior/neurological
• ingest about 5-fold more water (J:103187)
• ingest about 5-fold more water (J:103187)

Mouse Models of Human Disease
OMIM ID Ref(s)
Diabetes Insipidus, Nephrogenic, Autosomal 125800 J:103187


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
01/26/2016
MGI 6.02
The Jackson Laboratory