Phenotypes Associated with This Genotype

Genotype
MGI:2653134

• Allelic Composition: Cdon^tm1Rsk/Cdon^tm1Rsk
• Genetic Background: involves: 129/Sv * C57BL/6

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:82221 )

• some homozygotes die shortly after birth

postnatal lethality, incomplete penetrance ( J:82221 )

• about 60% die before P21

growth/size/body

abnormal upper incisor morphology ( J:82221 )

• mutants either have a single, central maxillary incisor or no maxillary incisors

• however, maxillary molars and mandibular structures develop normally

absent upper incisors ( J:82221 )

• maxillary incisors are sometimes absent

abnormal premaxilla morphology ( J:82221 )

• fusion of the premaxillary bone, resulting in severe pyriform aperture stenosis

abnormal philtrum morphology ( J:82221 )

• dysgenesis of the philtrum

absent primary palate ( J:82221 )

• lack a primary palate

abnormal nose morphology ( J:82221 )

• increase in presumptive mesenchyme between the nasal capsule and the oral cavity

absent nasal septum cartilage ( J:82221 )

• agenesis or hypoplasia of the nasal septal cartilage

nasal septum cartilage hypoplasia ( J:82221 )

• agenesis or hypoplasia of the nasal septal cartilage

small nasal septum ( J:82221 )

• nasal septum is reduced in size

piriform aperture stenosis ( J:82221 )

• fusion of the premaxillary bone, resulting in severe pyriform aperture stenosis

decreased body size ( J:82221 )

• of the mutants that survive after birth, about 35% are runted

craniofacial

abnormal craniofacial morphology ( J:82221 )

• about 95% of mutants exhibit craniofacial abnormalities

basisphenoid bone foramen ( J:82221 )

small basisphenoid bone ( J:82221 )

abnormal upper incisor morphology ( J:82221 )

• mutants either have a single, central maxillary incisor or no maxillary incisors

• however, maxillary molars and mandibular structures develop normally

absent upper incisors ( J:82221 )

• maxillary incisors are sometimes absent

abnormal premaxilla morphology ( J:82221 )

• fusion of the premaxillary bone, resulting in severe pyriform aperture stenosis

abnormal philtrum morphology ( J:82221 )

• dysgenesis of the philtrum

absent primary palate ( J:82221 )

• lack a primary palate

abnormal nose morphology ( J:82221 )

• increase in presumptive mesenchyme between the nasal capsule and the oral cavity

absent nasal septum cartilage ( J:82221 )

• agenesis or hypoplasia of the nasal septal cartilage

nasal septum cartilage hypoplasia ( J:82221 )

• agenesis or hypoplasia of the nasal septal cartilage

small nasal septum ( J:82221 )

• nasal septum is reduced in size

piriform aperture stenosis ( J:82221 )

• fusion of the premaxillary bone, resulting in severe pyriform aperture stenosis

digestive/alimentary system

absent primary palate ( J:82221 )

• lack a primary palate

respiratory system

abnormal nose morphology ( J:82221 )

• increase in presumptive mesenchyme between the nasal capsule and the oral cavity

absent nasal septum cartilage ( J:82221 )

• agenesis or hypoplasia of the nasal septal cartilage

nasal septum cartilage hypoplasia ( J:82221 )

• agenesis or hypoplasia of the nasal septal cartilage

small nasal septum ( J:82221 )

• nasal septum is reduced in size

piriform aperture stenosis ( J:82221 )

• fusion of the premaxillary bone, resulting in severe pyriform aperture stenosis

skeleton

basisphenoid bone foramen ( J:82221 )

small basisphenoid bone ( J:82221 )

abnormal upper incisor morphology ( J:82221 )

• mutants either have a single, central maxillary incisor or no maxillary incisors

• however, maxillary molars and mandibular structures develop normally

absent upper incisors ( J:82221 )

• maxillary incisors are sometimes absent

abnormal premaxilla morphology ( J:82221 )

• fusion of the premaxillary bone, resulting in severe pyriform aperture stenosis

absent nasal septum cartilage ( J:82221 )

• agenesis or hypoplasia of the nasal septal cartilage

nasal septum cartilage hypoplasia ( J:82221 )

• agenesis or hypoplasia of the nasal septal cartilage

nervous system

holoprosencephaly ( J:82221 )

• microform holoprosencephaly

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
holoprosencephaly 11		DOID:0110877	OMIM:614226	J:82221