Mouse Genome Informatics
hm
    Cdontm2Rsk/Cdontm2Rsk
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
• exhibit a similar range and frequency of neonatal lethality as Cdontm1Rsk homozygotes
• exhibit a similar range and frequency of lethality as Cdontm1Rsk homozygotes

growth/size
• lack a primary palate
• dysgenesis of the philtrum
• mutants either have a single, central maxillary incisor or no maxillary incisors
• increase in presumptive mesenchyme between the nasal capsule and the oral cavity
• although medial nasal process (MNP) fusion occurs normally at E11.5, later stage embryos maintain an epithelialized furrow at the MNP midline and have a recessed inferior border
• nasal septum is reduced in size and there is agenesis or hypoplasia of the nasal septal cartilage

craniofacial
• about 95% of mutants exhibit craniofacial abnormalities
• fusion of the premaxillary bone, resulting in severe pyriform aperture stenosis
• lack a primary palate
• dysgenesis of the philtrum
• mutants either have a single, central maxillary incisor or no maxillary incisors
• increase in presumptive mesenchyme between the nasal capsule and the oral cavity
• although medial nasal process (MNP) fusion occurs normally at E11.5, later stage embryos maintain an epithelialized furrow at the MNP midline and have a recessed inferior border
• 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

respiratory system
• increase in presumptive mesenchyme between the nasal capsule and the oral cavity
• although medial nasal process (MNP) fusion occurs normally at E11.5, later stage embryos maintain an epithelialized furrow at the MNP midline and have a recessed inferior border
• nasal septum is reduced in size and there is agenesis or hypoplasia of the nasal septal cartilage

digestive/alimentary system
• lack a primary palate

nervous system
• microform holoprosencephaly

Mouse Models of Human Disease
OMIM IDRef(s)
Holoprosencephaly 11; HPE11 614226 J:82221