Phenotypes Associated with This Genotype

Genotype
MGI:4361279

• Allelic Composition: Slc2a9^tm1.2Thor/Slc2a9^tm1.2Thor
• Genetic Background: involves: C57BL/6 * C57BL/6N

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:153089 )

• fewer than expected homozygotes are found, no time of lethality is provided

renal/urinary system

kidney cortex cyst ( J:153089 )

• microcystic tubules

increased urine potassium level ( J:153089 )

• mild

increased urine sodium level ( J:153089 )

• mild

increased urine magnesium level ( J:153089 )

• mild increase in Mg2+ excretion

• no alterations are detected in Ca2+, protein, or glucose excretion

decreased urine osmolality ( J:153089 )

• urine osmolality is decreased and water deprivation fails to increase urine osmolality

decreased urine pH ( J:153089 )

• significantly lower at 6 weeks of age

uraturia ( J:153089 )

• in males fractional excretion of urate is about 100% indicating severely impaired urate reabsorption

• in females fractional excretion of urate is about 150% indicating severely impaired urate reabsorption and increased tubular excretion

• in males and females, 24 hr urate excretion is increased 20 to 30 fold

kidney inflammation ( J:153089 )

• severe chronic interstitial fibrosis is seen in fibrotic areas

• granular precipitates in atrophic tubules are surrounded by severe chronic inflammation

tubulointerstitial nephritis ( J:153089 )

• progressive and severe chronic tubulo-interstitial nephritis

kidney cortex atrophy ( J:153089 )

• cortical atrophy

renal interstitial fibrosis ( J:153089 )

• at 16 weeks of age interstitial fibrosis with tubular atrophy is seen in about 50% of the superficial renal cortex

• granular precipitates in atrophic tubules are surrounded by interstitial fibrosis

hydronephrosis ( J:153089 )

renal tubule atrophy ( J:153089 )

• at 16 weeks of age interstitial fibrosis with tubular atrophy is seen in about 50% of the superficial renal cortex

dilated renal tubule ( J:153089 )

• newborns display discrete signs of tubular dilation

nephrolithiasis ( J:153089 )

• develop obstructive intratubular urate lithiasis by 2 weeks of age

abnormal renal reabsorption ( J:153089 )

• severely impaired urate reabsorption in the kidney

polyuria ( J:153089 )

• urine volume is increased about 5 fold

homeostasis/metabolism

increased circulating creatinine level ( J:153089 )

increased blood uric acid level ( J:153089 )

• plasma urate levels are increased

increased circulating magnesium level ( J:153089 )

• mild increase

increased urine potassium level ( J:153089 )

• mild

increased urine sodium level ( J:153089 )

• mild

increased urine magnesium level ( J:153089 )

• mild increase in Mg2+ excretion

• no alterations are detected in Ca2+, protein, or glucose excretion

decreased urine osmolality ( J:153089 )

• urine osmolality is decreased and water deprivation fails to increase urine osmolality

decreased urine pH ( J:153089 )

• significantly lower at 6 weeks of age

uraturia ( J:153089 )

• in males fractional excretion of urate is about 100% indicating severely impaired urate reabsorption

• in females fractional excretion of urate is about 150% indicating severely impaired urate reabsorption and increased tubular excretion

• in males and females, 24 hr urate excretion is increased 20 to 30 fold

behavior/neurological

polydipsia ( J:153089 )

• increase in water intake

growth/size/body

decreased body weight ( J:153089 )

• beyond 37 weeks of age, males weigh less than controls

kidney cortex cyst ( J:153089 )

• microcystic tubules

immune system

kidney inflammation ( J:153089 )

• severe chronic interstitial fibrosis is seen in fibrotic areas

• granular precipitates in atrophic tubules are surrounded by severe chronic inflammation

tubulointerstitial nephritis ( J:153089 )

• progressive and severe chronic tubulo-interstitial nephritis