Phenotypes Associated with This Genotype

Genotype
MGI:3687954

• Allelic Composition: Uoxⁱⁿ/Uoxⁱⁿ
• Genetic Background: involves: C57BL/6J * DBA/2J

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

mortality/aging

postnatal lethality ( J:70677 )

• 63% die postnatally at 12-14 days

renal/urinary system

abnormal urine homeostasis ( J:70677 )

• surviving adults show urine sediment containing ammonium and potassium urate calculi

abnormal kidney morphology ( J:70677 )

abnormal renal glomerulus morphology ( J:70677 )

• develop glomerular dilation

hydronephrosis ( J:70677 )

• develop hydronephrosis with a concomitant inflammatory response, followed by glomerular and tubular dilation

dilated renal tubule ( J:70677 )

polyuria ( J:70677 )

• surviving adults exhibit chronic polyuria, the urine sediment containing ammonium and potassium urate calculi

homeostasis/metabolism

increased circulating creatinine level ( J:70677 )

increased blood urea nitrogen level ( J:70677 )

abnormal urine homeostasis ( J:70677 )

• surviving adults show urine sediment containing ammonium and potassium urate calculi

immune system

chronic inflammation ( J:70677 )

• develop hydronephrosis with a concomitant inflammatory response

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hyperuricemia		DOID:1920		J:70677
kidney disease		DOID:557		J:70677