Phenotypes Associated with This Genotype

Genotype
MGI:6357730

• Allelic Composition: Atp6ap2^tm1.1Aich/Atp6ap2^tm1.1Aich; Tg(Hoxb7-cre)5526Cmb/0
• Genetic Background: involves: C57BL/6

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

renal/urinary system

kidney cyst ( J:223201 )

♀ • presence of occasional cysts in the medullary collecting ducts at P1

decreased urine osmolality ( J:223201 )

♀ • urine osmolalities are lower

increased urine pH ( J:223201 )

♀ • baseline urine pH is normal but is higher following 48 hours of acidic loading with NH4Cl, indicating a lower ability to handle an acidic load

abnormal kidney collecting duct morphology ( J:223201 )

♀ • collecting ducts show increased apoptosis at E18.5

dilated kidney collecting duct ( J:223201 )

♀ • dilation of tubules from a proximal tubule origin at P1

abnormal kidney cortex morphology ( J:223201 )

♀ • thin kidney cortex at P1

small kidney ( J:223201 )

♀ • small kidney size in newborns

decreased kidney weight ( J:223201 )

♀ • kidney weight and kidney-to-body weight ratios are lower at P1 at P30

renal hypoplasia ( J:223201 )

♀

decreased nephron number ( J:223201 )

♀ • decrease in nephron number at P1

abnormal ureteric bud morphology ( J:223201 )

♀ • ureteric buds show increased apoptosis at E12.5

abnormal metanephric ureteric bud development ( J:223201 )

♀ • kidneys show aberrant terminal differentiation of the ureteric bud epithelium

impaired branching involved in ureteric bud morphogenesis ( J:223201 )

♀ • E12.5 metanephroi show a reduction in the number of ureteric bud tips indicating a branching defect

polyuria ( J:223201 )

♀ • 24-hour urine volumes are higher despite similar water intake

homeostasis/metabolism

increased circulating creatinine level ( J:223201 )

♀ • levels of serum creatinine are increased at P30

decreased urine osmolality ( J:223201 )

♀ • urine osmolalities are lower

increased urine pH ( J:223201 )

♀ • baseline urine pH is normal but is higher following 48 hours of acidic loading with NH4Cl, indicating a lower ability to handle an acidic load

growth/size/body

kidney cyst ( J:223201 )

♀ • presence of occasional cysts in the medullary collecting ducts at P1