Phenotypes Associated with This Genotype

Genotype
MGI:5659970

• Allelic Composition: Dph1^tm1.1Cmch/Dph1^tm1.1Cmch; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J * CBA

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

mortality/aging

neonatal lethality, complete penetrance ( J:214744 )

• die shortly after birth

craniofacial

small cranium ( J:214744 )

mandible hypoplasia ( J:214744 )

• underdeveloped mandible

short mandible ( J:214744 )

• in newborns

absent palatine bone ( J:214744 )

• in newborns

palatal shelves fail to meet at midline ( J:214744 )

• palatal shelves remain in a vertical position

cleft palate ( J:214744 )

abnormal tongue position ( J:214744 )

• tongue fails to descend

growth/size/body

palatal shelves fail to meet at midline ( J:214744 )

• palatal shelves remain in a vertical position

cleft palate ( J:214744 )

abnormal tongue position ( J:214744 )

• tongue fails to descend

fetal growth retardation ( J:214744 )

• growth retardation at E14.5

homeostasis/metabolism

edema ( J:214744 )

integument

pallor ( J:214744 )

• pale appearance at E14.5

digestive/alimentary system

palatal shelves fail to meet at midline ( J:214744 )

• palatal shelves remain in a vertical position

cleft palate ( J:214744 )

abnormal tongue position ( J:214744 )

• tongue fails to descend

skeleton

small cranium ( J:214744 )

mandible hypoplasia ( J:214744 )

• underdeveloped mandible

short mandible ( J:214744 )

• in newborns

absent palatine bone ( J:214744 )

• in newborns

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Miller-Dieker lissencephaly syndrome		DOID:0060469	OMIM:247200	J:214744