Phenotypes Associated with This Genotype

Genotype
MGI:4457645

• Allelic Composition: Clcn5^tm2.1Tjj/Y
• Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * BALB/cJ * C57BL/6

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

renal/urinary system

decreased urine creatinine level ( J:160701 )

♂ • urine creatinine levels are decreased compared with wild-type mice

increased urine glucose level ( J:160701 )

♂

increased urine calcium level ( J:160701 )

♂

increased urine insulin level ( J:160701 )

♂ • urine insulin levels are increased compared to in wild-type mice

decreased urine pH ( J:160701 )

♂

increased urine phosphate level ( J:160701 )

♂

increased urine protein level ( J:160701 )

♂ • low-molecular weight proteinuria

polyuria ( J:160701 )

♂

cellular

abnormal cell physiology ( J:160701 )

♂ • receptor-mediated and fluid-phase endocytosis are defective compared to in wild-type cells

♂ • however, renal endosome acidification is normal

homeostasis/metabolism

decreased urine creatinine level ( J:160701 )

♂ • urine creatinine levels are decreased compared with wild-type mice

increased urine glucose level ( J:160701 )

♂

increased urine calcium level ( J:160701 )

♂

increased urine insulin level ( J:160701 )

♂ • urine insulin levels are increased compared to in wild-type mice

decreased urine pH ( J:160701 )

♂

increased urine phosphate level ( J:160701 )

♂

increased urine protein level ( J:160701 )

♂ • low-molecular weight proteinuria