Phenotypes Associated with This Genotype

Genotype
MGI:3589774

• Allelic Composition: Aqp11^tm1Lex/Aqp11^tm1Lex
• Genetic Background: 129S5/SvEvBrd-Aqp11^tm1Lex

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

mortality/aging

premature death ( J:100522 )

• homozygotes begin to die around 15 days of age from renal failure with only 15% surviving to 60 days of age

renal/urinary system

kidney cortex cyst ( J:100522 )

• small cysts originating from the proximal tubules are present in the cortex at 3 weeks of age and increase in size with age but are not present in the medulla nor at birth

• cyst epithelia have vacuoles in the cytoplasm

enlarged kidney ( J:100522 )

• kidneys are large and pale with a rough texture and occupy the entire abdominal cavity at 30 days of age

abnormal proximal convoluted tubule morphology ( J:100522 )

• at birth some proximal tubules are swollen due to the presence of large vacuoles, by 1 week of age swollen tubules occupy the entire cortex, and by 3 weeks these tubules develop into cysts

• vacuoles appear to develop from the endoplasmic reticulum

• proximal tubule cells have a defect in endosomal pH regulation but have normal [Cl-] homeostasis

pale kidney ( J:100522 )

kidney failure ( J:100522 )

homeostasis/metabolism

increased blood urea nitrogen level ( J:100522 )

• progressive elevation of blood urea nitrogen begins around 10 days of age

growth/size/body

kidney cortex cyst ( J:100522 )

• small cysts originating from the proximal tubules are present in the cortex at 3 weeks of age and increase in size with age but are not present in the medulla nor at birth

• cyst epithelia have vacuoles in the cytoplasm

postnatal growth retardation ( J:100522 )

• around 2 weeks of age homozygotes show reduced growth

enlarged kidney ( J:100522 )

• kidneys are large and pale with a rough texture and occupy the entire abdominal cavity at 30 days of age