Phenotypes Associated with This Genotype

Genotype
MGI:4819114

• Allelic Composition: Tg(Umod*C147W)958Lura/0
• Genetic Background: involves: FVB

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

renal/urinary system

abnormal kidney morphology ( J:161532 )

• kidney cells exhibit endoplasmic reticulum hyperplasia, protein inclusions, and cell necrosis unlike in Tg(Umod)416Lura mice

kidney corticomedullary cyst ( J:161532 )

• tubular cysts in the cortico-medullary area after 24 weeks

renal interstitial fibrosis ( J:161532 )

abnormal renal tubule morphology ( J:161532 )

• at 12 weeks, mice exhibit sparse tubular atrophy unlike Tg(Umod)416Lura mice

• from 24 weeks, mice exhibit progressive tubulo-interstitial damage with increasing fibrosis, tubular cysts in the cortico-medullary area, and damaged tubules with cells containing vesicular structures and dense material compared with Tg(Umod)416Lura mice

• from 24 weeks, mice exhibit tracts of increased thickness or multilayered tubular basement membrane or gaps of the tubular basement membrane unlike in Tg(Umod)416Lura mice

renal tubule atrophy ( J:161532 )

• at 12 weeks, mice exhibit sparse tubular atrophy unlike Tg(Umod)416Lura mice

dilated renal tubule ( J:161532 )

• mild to moderate at 12 weeks of age

renal tubular necrosis ( J:161532 )

• kidney tubular cells exhibit cell necrosis unlike in Tg(Umod)416Lura mice

renal cast ( J:161532 )

• at 12 weeks, some dilated tubules are filled with proteins casts

abnormal renal/urinary system physiology ( J:161532 )

increased kidney cell proliferation ( J:161532 )

• mice exhibit increased kidney cell proliferation unlike Tg(Umod)416Lura mice

increased urine calcium level ( J:161532 )

decreased urine osmolality ( J:161532 )

decreased urine pH ( J:161532 )

kidney inflammation ( J:161532 )

• mice exhibit progressive interstitial inflammation with increased cell proliferation unlike Tg(Umod)416Lura mice

• mice exhibit increased numbers of interstitial macrophage between 12 and 24 weeks, particularly in the renal medulla, unlike Tg(Umod)416Lura mice

isosthenuria ( J:161532 )

• mice fail to concentrate urine when subjected to water deprivation unlike Tg(Umod)416Lura mice

kidney failure ( J:161532 )

• mild

polyuria ( J:161532 )

homeostasis/metabolism

increased circulating creatinine level ( J:161532 )

increased blood osmolality ( J:161532 )

increased blood urea nitrogen level ( J:161532 )

increased circulating antidiuretic hormone level ( J:161532 )

increased urine calcium level ( J:161532 )

decreased urine osmolality ( J:161532 )

decreased urine pH ( J:161532 )

behavior/neurological

polydipsia ( J:161532 )

immune system

kidney inflammation ( J:161532 )

• mice exhibit progressive interstitial inflammation with increased cell proliferation unlike Tg(Umod)416Lura mice

• mice exhibit increased numbers of interstitial macrophage between 12 and 24 weeks, particularly in the renal medulla, unlike Tg(Umod)416Lura mice

cellular

increased kidney cell proliferation ( J:161532 )

• mice exhibit increased kidney cell proliferation unlike Tg(Umod)416Lura mice

growth/size/body

kidney corticomedullary cyst ( J:161532 )

• tubular cysts in the cortico-medullary area after 24 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial juvenile hyperuricemic nephropathy		DOID:0060062	OMIM:162000 OMIM:613092 OMIM:614227	J:161532
kidney disease		DOID:557		J:161532