Phenotypes Associated with This Genotype

Genotype
MGI:5659969

• Allelic Composition: Dph1^tm2Bhr/Dph1^tm2Bhr
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

mortality/aging

lethality at weaning, complete penetrance ( J:214744 )

• no mice are seen at weaning

craniofacial

short Meckel's cartilage ( J:214744 )

• Meckel's cartilages in the lower jaws are shorter at E15.5 and E16.5

• however, embryos display normal cartilage formation

small cranium ( J:214744 )

micrognathia ( J:214744 )

absent palatine bone ( J:214744 )

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

• distance between palate shelves at E14.5 and E15.5 is increased

• absence of palatal shelf fusion at the midline at E15.5 because palatal shelves remain on the lateral sides of the tongue

decreased palatal shelf size ( J:214744 )

• smaller palatal shelves at E13.5

cleft secondary palate ( J:214744 )

• severe cleft palate at birth

• palatal shelf elevation in ex vivo culture without the tongue and lower jaw occurs normally, indicating that palatal shelves are able to initiate elevation, however the smaller palatal shelves and shorter lower jaw are what may contribute to cleft palate

abnormal tongue position ( J:214744 )

• tongue fails to descend at E14.5 and E15.5

growth/size/body

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

• distance between palate shelves at E14.5 and E15.5 is increased

• absence of palatal shelf fusion at the midline at E15.5 because palatal shelves remain on the lateral sides of the tongue

decreased palatal shelf size ( J:214744 )

• smaller palatal shelves at E13.5

cleft secondary palate ( J:214744 )

• severe cleft palate at birth

• palatal shelf elevation in ex vivo culture without the tongue and lower jaw occurs normally, indicating that palatal shelves are able to initiate elevation, however the smaller palatal shelves and shorter lower jaw are what may contribute to cleft palate

abnormal tongue position ( J:214744 )

• tongue fails to descend at E14.5 and E15.5

decreased body size ( J:214744 )

limbs/digits/tail

preaxial polydactyly ( J:214744 )

• additional digits on the hindlimbs

digestive/alimentary system

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

• distance between palate shelves at E14.5 and E15.5 is increased

• absence of palatal shelf fusion at the midline at E15.5 because palatal shelves remain on the lateral sides of the tongue

decreased palatal shelf size ( J:214744 )

• smaller palatal shelves at E13.5

cleft secondary palate ( J:214744 )

• severe cleft palate at birth

• palatal shelf elevation in ex vivo culture without the tongue and lower jaw occurs normally, indicating that palatal shelves are able to initiate elevation, however the smaller palatal shelves and shorter lower jaw are what may contribute to cleft palate

abnormal tongue position ( J:214744 )

• tongue fails to descend at E14.5 and E15.5

skeleton

short Meckel's cartilage ( J:214744 )

• Meckel's cartilages in the lower jaws are shorter at E15.5 and E16.5

• however, embryos display normal cartilage formation

small cranium ( J:214744 )

micrognathia ( J:214744 )

absent palatine bone ( J:214744 )

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