Phenotypes Associated with This Genotype

Genotype
MGI:5760132

• Allelic Composition: Slc2a9^tm1Khm/Slc2a9^tm1Khm; Tg(Vil1-cre)997Gum/0
• Genetic Background: involves: 129 * C57BL/6 * C57BL/6J

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

growth/size/body

increased body fat mass ( J:221544 )

• significantly increased body fat mass relative to control mice

digestive/alimentary system

abnormal feces composition ( J:221544 )

• liquid chromatography-mass spectrometry of stool extracts revealed significantly reduced stool urate concentrations relative to controls, suggesting impaired enterocyte uptake and efflux into stool

abnormal enterocyte physiology ( J:221544 )

• isolated villous enterocytes display a ~65% reduction in [14C]-urate uptake relative to control enterocytes

adipose tissue

increased body fat mass ( J:221544 )

• significantly increased body fat mass relative to control mice

increased percent body fat/body weight ( J:221544 )

• significantly increased body fat percentage relative to control mice

homeostasis/metabolism

increased blood uric acid level ( J:221544 )

• significantly higher serum uric acid concentrations in fasting 6-8-week-old mice

• plasma uric acid levels are significantly decreased following allopurinol treatment

increased circulating insulin level ( J:221544 )

• ~40% increase in fasting plasma insulin levels relative to controls

abnormal circulating lipid level ( J:221544 )

• mice exhibit dyslipidemia, unlike control mice

increased circulating cholesterol level ( J:221544 )

• significantly increased total plasma cholesterol levels in fasting mice relative controls

• total plasma cholesterol levels are significantly lowered following allopurinol treatment

increased circulating free fatty acids level ( J:221544 )

• significantly increased plasma free fatty acid levels in fasting mice relative controls

• fasting free fatty acid levels are not significantly affected by allopurinol treatment

increased circulating triglyceride level ( J:221544 )

• significantly increased plasma triglyceride levels in fasting mice relative controls

• fasting triglyceride levels are not significantly affected by allopurinol treatment

increased energy expenditure ( J:221544 )

• higher resting energy expenditure relative to control mice, as determined by indirect calorimetry

increased oxygen consumption ( J:221544 )

• significantly increased volume of inspired oxygen in both 8- and 16-week-old mice relative controls

decreased respiratory quotient ( J:221544 )

• significantly decreased respiratory exchange ratio in 8-week-old mice relative controls

insulin resistance ( J:221544 )

• signs of early insulin resistance, with an ~40% increase in fasting plasma insulin levels in the context of normal fasting blood glucose and insulin tolerance testing

increased liver free fatty acids level ( J:221544 )

• hepatic free fatty acids are elevated in liver homogenates relative to controls

increased liver triglyceride level ( J:221544 )

• hepatic triglycerides are elevated in liver homogenates relative to controls

• hepatic triglyceride content is significantly lowered following allopurinol treatment

increased urine uric acid level ( J:221544 )

• significantly higher urine uric acid concentrations in fasting 6-8-week-old mice

• urine urate concentrations are not significantly altered by allopurinol treatment

abnormal metabolism ( J:221544 )

• mice develop early-onset spontaneous hyperuricemic metabolic syndrome that is partially reversed by allopurinol, a xanthine oxidase inhibitor

increased basal metabolism ( J:221544 )

• significantly increased heat production in 8-week-old mice relative controls

cardiovascular system

abnormal heart echocardiography feature ( J:221544 )

• echocardiography revealed significantly increased basal heart rate, decreased diastolic left ventricular internal diameter with increased relative wall thickness, suggesting cardiac hypertrophic remodeling

• echocardiographic parameters are not significantly altered by allopurinol treatment

increased heart rate ( J:221544 )

• significantly increased basal heart rate relative to controls, as shown by echocardiography

hypertension ( J:221544 )

• baseline hypertension, as shown by significantly increased systolic, diastolic, and mean blood pressure in non-fasting mice relative controls

• blood pressure is significantly lowered following allopurinol treatment

liver/biliary system

increased liver free fatty acids level ( J:221544 )

• hepatic free fatty acids are elevated in liver homogenates relative to controls

increased liver triglyceride level ( J:221544 )

• hepatic triglycerides are elevated in liver homogenates relative to controls

• hepatic triglyceride content is significantly lowered following allopurinol treatment

hepatic steatosis ( J:221544 )

• increased hepatic fat deposition relative to controls

liver fibrosis ( J:221544 )

renal/urinary system

increased urine uric acid level ( J:221544 )

• significantly higher urine uric acid concentrations in fasting 6-8-week-old mice

• urine urate concentrations are not significantly altered by allopurinol treatment

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
abdominal obesity-metabolic syndrome		DOID:0060611	OMIM:PS605552	J:221544
hyperuricemia		DOID:1920		J:221544