Phenotypes Associated with This Genotype

Genotype
MGI:3811281

• Allelic Composition: Pkd1^tm2Jzh/Pkd1^tm2Jzh
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:140012 )

• about 10% of embryos survive until birth

lethality throughout fetal growth and development, incomplete penetrance ( J:140012 )

• embryos die as early as E13.5 with a peak between E14.5 and E16.5

• about 10% of embryos survive until birth

homeostasis/metabolism

edema ( J:140012 )

• systemic edema is noted in mice that have survived until birth

polyhydramnios ( J:140012 )

• is noted in mice that have survived until birth

renal/urinary system

polycystic kidney ( J:140012 )

• kidney cysts are first detectable in embryos at E15.5

• new born mice have polycystic kidneys with large cysts visibly disrupting the kidney architecture

growth/size/body

polycystic kidney ( J:140012 )

• kidney cysts are first detectable in embryos at E15.5

• new born mice have polycystic kidneys with large cysts visibly disrupting the kidney architecture

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:140012