Phenotypes Associated with This Genotype

Genotype
MGI:6392266

• Allelic Composition: Tulp3^m1Kflj/Tulp3^m1Kflj
• Genetic Background: involves: C57BL/6J * FVB/NJ

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:284006 )

• variable perinatal lethality

postnatal lethality ( J:284006 )

• mice survive up to weaning age

craniofacial

cleft palate ( J:284006 )

• cleft palate, incomplete penetrance

homeostasis/metabolism

increased circulating creatinine level ( J:284006 )

increased blood urea nitrogen level ( J:284006 )

renal/urinary system

increased kidney cell proliferation ( J:284006 )

• an increase in cell proliferation is seen in the proximal tubules at the time of cyst formation

polycystic kidney ( J:284006 )

• renal cysts are apparent in kidneys at E18.5 but not at E15.5

• renal cysts first form in the proximal tubules

enlarged kidney ( J:284006 )

• kidneys are grossly enlarged at P14 due to cysts

• however, kidney cells exhibit normal cilia morphology at P0

skeleton

abnormal skeleton morphology ( J:284006 )

• incomplete penetrance of skeletal abnormalities

increased rib number ( J:284006 )

• rib duplications, incomplete penetrance

cellular

increased kidney cell proliferation ( J:284006 )

• an increase in cell proliferation is seen in the proximal tubules at the time of cyst formation

growth/size/body

cleft palate ( J:284006 )

• cleft palate, incomplete penetrance

polycystic kidney ( J:284006 )

• renal cysts are apparent in kidneys at E18.5 but not at E15.5

• renal cysts first form in the proximal tubules

enlarged kidney ( J:284006 )

• kidneys are grossly enlarged at P14 due to cysts

• however, kidney cells exhibit normal cilia morphology at P0

digestive/alimentary system

cleft palate ( J:284006 )

• cleft palate, incomplete penetrance

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease		DOID:0080322	OMIM:PS173900	J:284006