Phenotypes Associated with This Genotype

Genotype
MGI:3044750

• Allelic Composition: Mnt^tm1.1Awb/Mnt^tm1.1Awb
• Genetic Background: involves: 129S6/SvEvTac * FVB/N

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:90397 )

• most died at birth or within 4 days after birth

• less than 2% of homozygotes survive to adulthood

behavior/neurological

absent gastric milk in neonates ( J:90397 )

• after birth, pups had reduced quantities of milk in their stomachs compared to controls

craniofacial

small cranium ( J:90397 )

• relatively symmetrical reductions in length and width

abnormal neurocranium morphology ( J:90397 )

small interparietal bone ( J:90397 )

• reduced in size

small occipital bone ( J:90397 )

abnormal viscerocranium morphology ( J:90397 )

small mandible ( J:90397 )

• reductions in dimensions greater than for the skull as a whole

absent palatine bone ( J:90397 )

• bone absent in many animals with cleft palates

cleft palate ( J:90397 )

• seen in about 37% of homozygotes and may involve either or both hard and soft palate

• normal closure of the palate at E14.5 did not occur

failure of palatal shelf elevation ( J:90397 )

• the tongue prevents the elevation of palate shelves in homozygous mice and is a possible consequence of the small jaw

growth/size/body

cleft palate ( J:90397 )

• seen in about 37% of homozygotes and may involve either or both hard and soft palate

• normal closure of the palate at E14.5 did not occur

failure of palatal shelf elevation ( J:90397 )

• the tongue prevents the elevation of palate shelves in homozygous mice and is a possible consequence of the small jaw

decreased birth body size ( J:90397 )

• smaller than normal at birth

abnormal postnatal growth ( J:90397 )

• embryonic growth deficit made up by adulthood

decreased fetal size ( J:90397 )

• smaller than normal at E14.5 and E18.5

reproductive system

reproductive system phenotype ( J:90397 )

N • surviving homozygotes were fertile

skeleton

small cranium ( J:90397 )

• relatively symmetrical reductions in length and width

abnormal neurocranium morphology ( J:90397 )

small interparietal bone ( J:90397 )

• reduced in size

small occipital bone ( J:90397 )

abnormal viscerocranium morphology ( J:90397 )

small mandible ( J:90397 )

• reductions in dimensions greater than for the skull as a whole

absent palatine bone ( J:90397 )

• bone absent in many animals with cleft palates

digestive/alimentary system

cleft palate ( J:90397 )

• seen in about 37% of homozygotes and may involve either or both hard and soft palate

• normal closure of the palate at E14.5 did not occur

failure of palatal shelf elevation ( J:90397 )

• the tongue prevents the elevation of palate shelves in homozygous mice and is a possible consequence of the small jaw

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Miller-Dieker lissencephaly syndrome		DOID:0060469	OMIM:247200	J:90397