Phenotypes Associated with This Genotype

Genotype
MGI:6107228

• Allelic Composition: Dzip1l^warpy/Dzip1l^warpy
• Genetic Background: involves: C3H * C57BL/6

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

craniofacial

bilateral cleft upper lip ( J:249936 )

• bilateral cleft upper lip

cleft palate ( J:249936 )

digestive/alimentary system

cleft palate ( J:249936 )

growth/size/body

bilateral cleft upper lip ( J:249936 )

• bilateral cleft upper lip

cleft palate ( J:249936 )

kidney cyst ( J:249936 )

• from 15.5 dpc

limbs/digits/tail

polydactyly ( J:249936 )

• on all four limbs

mortality/aging

lethality, incomplete penetrance ( J:249936 )

• expected Mendelian frequency at mid-gestation (10.5 dpc) but decreased viability at later stages

prenatal lethality prior to heart atrial septation ( J:249936 )

• expected Mendelian frequency at mid-gestation (10.5 dpc) but decreased viability at later stages

renal/urinary system

kidney cyst ( J:249936 )

• from 15.5 dpc

vision/eye

abnormal eye morphology ( J:249936 )

• in 67% of embryos from 13.5 dpc

abnormal eye distance/ position ( J:249936 )

• sometimes internalized eyes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive polycystic kidney disease		DOID:0110861	OMIM:263200	J:249936