Phenotypes associated with this allele

• Allele Symbol: Aqp11^tm1Lex
• Allele Name: targeted mutation 1, Lexicon Genetics
• Allele ID: MGI:3528447
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Aqp11^tm1Lex/Aqp11^tm1Lex	129S5/SvEvBrd-Aqp11^tm1Lex	MGI:3589774
hm2	Aqp11^tm1Lex/Aqp11^tm1Lex	involves: 129S5/SvEvBrd * C57BL/6 * CD-1	MGI:4941789
ht3	Aqp11^sjds/Aqp11^tm1Lex	involves: 129S5/SvEvBrd * BALB/cRl * C57BL/6 * CD-1	MGI:4941788

Genotype
MGI:3589774

hm1

• 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 )

• vacuoles appear to develop from the endoplasmic reticulum

• 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

• 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

Genotype
MGI:4941789

hm2

• Allelic Composition: Aqp11^tm1Lex/Aqp11^tm1Lex
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6 * CD-1

mortality/aging

premature death ( J:169660 )

• lifespan is between 15 and 60 days

renal/urinary system

decreased urine osmolality ( J:169660 )

abnormal kidney cortex morphology ( J:169660 )

• mice exhibit tubular and cellular swelling with the formation of giant vacuoles ("spider web") in the renal cortex unlike wild-type mice

abnormal renal tubule morphology ( J:169660 )

• mice exhibit tubular swelling unlike wild-type mice

• mice exhibit alterations in the tubular membrane consistent with severe epithelial cell injury unlike wild-type mice

kidney failure ( J:169660 )

homeostasis/metabolism

increased blood urea nitrogen level ( J:169660 )

decreased urine osmolality ( J:169660 )

growth/size/body

decreased body weight ( J:169660 )

• at weaning

Genotype
MGI:4941788

ht3

• Allelic Composition: Aqp11^sjds/Aqp11^tm1Lex
• Genetic Background: involves: 129S5/SvEvBrd * BALB/cRl * C57BL/6 * CD-1

mortality/aging

postnatal lethality, complete penetrance ( J:169660 )

• mice die between 10 and 20 days

renal/urinary system

abnormal kidney cortex morphology ( J:169660 )

• mice exhibit tubular and cellular swelling with the formation of giant vacuoles ("spider web") in the renal cortex unlike wild-type mice

abnormal renal tubule morphology ( J:169660 )

• mice exhibit tubular swelling unlike wild-type mice

• mice exhibit alterations in the tubular membrane consistent with severe epithelial cell injury unlike wild-type mice

pale kidney ( J:169660 )

homeostasis/metabolism

increased blood urea nitrogen level ( J:169660 )