Phenotypes Associated with This Genotype

Genotype
MGI:5471136

• Allelic Composition: Gpsm1^tm1.1Lajb/Gpsm1^tm1.1Lajb; Pkd1^tm1.1Fqi/Pkd1^tm1.1Fqi
• Genetic Background: involves: 129S6/SvEvTac

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

homeostasis/metabolism

increased circulating creatinine level ( J:193175 )

• plasma creatinine is increased in mice compared to single Pkd1 homozygotes at P11-12

increased blood urea nitrogen level ( J:193175 )

• blood urea nitrogen is higher in mice compared to single Pkd1 homozygotes at P19

renal/urinary system

polycystic kidney ( J:193175 )

• mice exhibit an increase in cyst progression compared to single Pkd1 homozygotes

• proliferating cell nuclear antigen-positive renal cystic epithelial cells are higher than in single Pkd1 homozygous kidneys

enlarged kidney ( J:193175 )

• kidney-to-body weight ratio is higher than in single Pkd1 homozygotes or wild-type mice at P11-12

abnormal kidney physiology ( J:193175 )

• renal function is reduced in double mutants more than in single Pkd1 homozygotes as indicating by a larger increase in blood urea nitrogen and plasma creatinine levels

growth/size/body

polycystic kidney ( J:193175 )

• mice exhibit an increase in cyst progression compared to single Pkd1 homozygotes

• proliferating cell nuclear antigen-positive renal cystic epithelial cells are higher than in single Pkd1 homozygous kidneys

enlarged kidney ( J:193175 )

• kidney-to-body weight ratio is higher than in single Pkd1 homozygotes or wild-type mice at P11-12

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:193175