Phenotypes Associated with This Genotype

Genotype
MGI:2175905

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

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

mortality/aging

postnatal lethality, complete penetrance ( J:31533 , J:6718 )

• die around 19 days of age (J:31533)

• die by 20-23 days of age (J:6718)

renal/urinary system

kidney cyst ( J:9290 , J:6718 )

• initially presents as dilation of the proximal tubule in fetal and newborn mice, then shifts to dilation of the cortical and medullary collecting ducts after the first week of life (J:9290)

• epithelial hyperplasia but not polypoid hyperplasia is seen in the cysts (J:9290)

• large cysts occupy the entire kidney, distort the corticomedullary junction, involve collecting ducts and other portions of the kidney, and are lined with flattened epithelium the is frequently squamous (J:6718)

polycystic kidney ( J:31533 )

• bilateral polycystic kidneys become apparent by 8 - 9 days of age

enlarged kidney ( J:9290 , J:6718 )

• increase in kidney size is the result of both increased cystic fluid and increased cell mass (J:9290)

• at 23 days of age, kidneys occupy almost the entire abdominal cavity (J:6718)

• at 17-24 days of age, average kidneys size was 16 mm x 11 mm compared to 6 mm x 3 mm in wild-type mice (J:6718)

increased kidney weight ( J:9290 )

• kidney weight is increased in newborns and a progressive increase in kidney wet and dry weight as well as size is seen with age

colorless urine ( J:6718 )

• urine is colorless in grossly affected mice

abnormal kidney corticomedullary boundary morphology ( J:6718 )

• large cysts distort the corticomedullary junction

homeostasis/metabolism

increased blood urea nitrogen level ( J:9290 , J:6718 )

• progressive azotemia seen starting at 1 week of age (J:9290)

• mean BUN was 120mg% compared to 0.2mg% in wild-type mice (J:6718)

colorless urine ( J:6718 )

• urine is colorless in grossly affected mice

growth/size/body

kidney cyst ( J:9290 , J:6718 )

• initially presents as dilation of the proximal tubule in fetal and newborn mice, then shifts to dilation of the cortical and medullary collecting ducts after the first week of life (J:9290)

• epithelial hyperplasia but not polypoid hyperplasia is seen in the cysts (J:9290)

• large cysts occupy the entire kidney, distort the corticomedullary junction, involve collecting ducts and other portions of the kidney, and are lined with flattened epithelium the is frequently squamous (J:6718)

polycystic kidney ( J:31533 )

• bilateral polycystic kidneys become apparent by 8 - 9 days of age

distended abdomen ( J:31533 , J:6718 )

• apparent by 8 - 9 days of age (J:31533)

• seen at 10-13 days of age (J:6718)

enlarged kidney ( J:9290 , J:6718 )

• increase in kidney size is the result of both increased cystic fluid and increased cell mass (J:9290)

• at 23 days of age, kidneys occupy almost the entire abdominal cavity (J:6718)

• at 17-24 days of age, average kidneys size was 16 mm x 11 mm compared to 6 mm x 3 mm in wild-type mice (J:6718)

increased kidney weight ( J:9290 )

• kidney weight is increased in newborns and a progressive increase in kidney wet and dry weight as well as size is seen with age

hematopoietic system

decreased hematocrit ( J:9290 )

• seen at 2 - 3 weeks of age

behavior/neurological

lethargy ( J:6718 )

• become progressively lethargic

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive polycystic kidney disease		DOID:0110861		J:6718 , J:9290