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Phenotypes Associated with This Genotype
Genotype
MGI:2653135
Allelic
Composition
Cdontm2Rsk/Cdontm2Rsk
Genetic
Background
involves: 129/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdontm2Rsk mutation (1 available); any Cdon mutation (24 available)
phenotype observed in females
phenotype observed in males
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/body
• mutants either have a single, central maxillary incisor or no maxillary incisors
• lack a primary palate
• dysgenesis of the philtrum
• 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
• mutants either have a single, central maxillary incisor or no maxillary incisors
• lack a primary palate
• dysgenesis of the philtrum
• 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
• mutants either have a single, central maxillary incisor or no maxillary incisors

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 ID Ref(s)
Holoprosencephaly 11; HPE11 614226 J:82221


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory