Phenotypes Associated with This Genotype

Genotype
MGI:3583529

• Allelic Composition: Cys1^cpk/Cys1^cpk
• Genetic Background: B6(Cg)-Cys1^cpk/JUnc

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

mortality/aging

premature death ( J:7202 )

• most die by 4 weeks of age with a few rare survivors reaching 5 weeks of age

renal/urinary system

kidney cyst ( J:7202 )

• cysts are grossly visible on cut surfaces of kidneys at 3 weeks of age with mild cystic changes already visible at E17

• progressive dilation of the proximal convoluted tubules and collecting ducts associated with intracellular vacuoles in proximal convoluted tubule cells

enlarged kidney ( J:7202 )

• at 3 weeks of age the kidney occupies almost the entire abdominal cavity and constitutes about 25% of body weight

colorless urine ( J:7202 )

• at around 4 weeks of age urine becomes colorless

homeostasis/metabolism

increased circulating creatinine level ( J:7202 )

increased blood urea nitrogen level ( J:7202 )

colorless urine ( J:7202 )

• at around 4 weeks of age urine becomes colorless

growth/size/body

kidney cyst ( J:7202 )

• cysts are grossly visible on cut surfaces of kidneys at 3 weeks of age with mild cystic changes already visible at E17

• progressive dilation of the proximal convoluted tubules and collecting ducts associated with intracellular vacuoles in proximal convoluted tubule cells

distended abdomen ( J:7202 )

• seen at 3 weeks of age

enlarged kidney ( J:7202 )

• at 3 weeks of age the kidney occupies almost the entire abdominal cavity and constitutes about 25% of body weight

behavior/neurological

lethargy ( J:7202 )

• seen at around 4 weeks of age

tremors ( J:7202 )

• seen at around 4 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive polycystic kidney disease		DOID:0110861		J:7202