Phenotypes Associated with This Genotype

Genotype
MGI:3511454

• Allelic Composition: Aqp2^tm1Ask/Aqp2^tm1Ask
• Genetic Background: involves: C57BL/6J

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

mortality/aging

postnatal lethality, complete penetrance ( J:94003 )

• mice survive only 5-6 days after birth

homeostasis/metabolism

increased blood osmolality ( J:94003 )

• at 5 days after birth, serum osmolality is markedly increased in dehydrated mutant mice

increased blood urea nitrogen level ( J:94003 )

• 7 X normal levels

dehydration ( J:94003 )

• dehydration and failure to thrive

decreased urine osmolality ( J:94003 )

• approximately 200 mOsm as opposed to 400 mOsm in controls

renal/urinary system

decreased urine osmolality ( J:94003 )

• approximately 200 mOsm as opposed to 400 mOsm in controls

abnormal kidney morphology ( J:94003 )

• showed signs of obstructive uropathy

kidney medulla cyst ( J:94003 )

• some instances in which the medulla was replaced by a large fluid filled cavity

dilated kidney collecting duct ( J:94003 )

• dilatation of collecting ducts

kidney papillary atrophy ( J:94003 )

• papillary atrophy

kidney medulla atrophy ( J:94003 )

polyuria ( J:94003 )

• low urine osmolality and high serum osmolality indicating polyuria

growth/size/body

kidney medulla cyst ( J:94003 )

• some instances in which the medulla was replaced by a large fluid filled cavity