Mouse Genome Informatics
hm
    Cdontm1Rsk/Cdontm1Rsk
involves: 129/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• some homozygotes die shortly after birth
• about 60% die before P21

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

craniofacial
• about 95% of mutants exhibit craniofacial abnormalities
• fusion of the premaxillary bone, resulting in severe pyriform aperture stenosis
• lack a primary palate
• increase in presumptive mesenchyme between the nasal capsule and the oral cavity
• nasal septum is reduced in size and there is agenesis or hypoplasia of the nasal septal cartilage
• dysgenesis of the philtrum
• mutants either have a single, central maxillary incisor or no maxillary incisors
• however, maxillary molars and mandibular structures develop normally
• maxillary incisors are sometimes absent

digestive/alimentary system
• lack a primary palate

respiratory system
• increase in presumptive mesenchyme between the nasal capsule and the oral cavity
• nasal septum is reduced in size and there is agenesis or hypoplasia of the nasal septal cartilage

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

nervous system
• microform holoprosencephaly

Mouse Models of Human Disease
OMIM IDRef(s)
Holoprosencephaly 236100 J:82221