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Phenotypes Associated with This Genotype
Genotype
MGI:2653134
Allelic
Composition
Cdontm1Rsk/Cdontm1Rsk
Genetic
Background
involves: 129/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdontm1Rsk mutation (0 available); any Cdon mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some homozygotes die shortly after birth (J:82221)
• some homozygotes die shortly after birth (J:82221)
• about 60% die before P21 (J:82221)
• about 60% die before P21 (J:82221)

growth/size/body
• lack a primary palate (J:82221)
• lack a primary palate (J:82221)
• dysgenesis of the philtrum (J:82221)
• dysgenesis of the philtrum (J:82221)
• mutants either have a single, central maxillary incisor or no maxillary incisors (J:82221)
• however, maxillary molars and mandibular structures develop normally (J:82221)
• mutants either have a single, central maxillary incisor or no maxillary incisors (J:82221)
• however, maxillary molars and mandibular structures develop normally (J:82221)
• maxillary incisors are sometimes absent (J:82221)
• maxillary incisors are sometimes absent (J:82221)
• increase in presumptive mesenchyme between the nasal capsule and the oral cavity (J:82221)
• increase in presumptive mesenchyme between the nasal capsule and the oral cavity (J:82221)
• nasal septum is reduced in size and there is agenesis or hypoplasia of the nasal septal cartilage (J:82221)
• nasal septum is reduced in size and there is agenesis or hypoplasia of the nasal septal cartilage (J:82221)
• of the mutants that survive after birth, about 35% are runted (J:82221)
• of the mutants that survive after birth, about 35% are runted (J:82221)

craniofacial
• about 95% of mutants exhibit craniofacial abnormalities (J:82221)
• about 95% of mutants exhibit craniofacial abnormalities (J:82221)
• fusion of the premaxillary bone, resulting in severe pyriform aperture stenosis (J:82221)
• fusion of the premaxillary bone, resulting in severe pyriform aperture stenosis (J:82221)
• lack a primary palate (J:82221)
• lack a primary palate (J:82221)
• dysgenesis of the philtrum (J:82221)
• dysgenesis of the philtrum (J:82221)
• mutants either have a single, central maxillary incisor or no maxillary incisors (J:82221)
• however, maxillary molars and mandibular structures develop normally (J:82221)
• mutants either have a single, central maxillary incisor or no maxillary incisors (J:82221)
• however, maxillary molars and mandibular structures develop normally (J:82221)
• maxillary incisors are sometimes absent (J:82221)
• maxillary incisors are sometimes absent (J:82221)
• increase in presumptive mesenchyme between the nasal capsule and the oral cavity (J:82221)
• increase in presumptive mesenchyme between the nasal capsule and the oral cavity (J:82221)
• nasal septum is reduced in size and there is agenesis or hypoplasia of the nasal septal cartilage (J:82221)
• nasal septum is reduced in size and there is agenesis or hypoplasia of the nasal septal cartilage (J:82221)

digestive/alimentary system
• lack a primary palate (J:82221)
• lack a primary palate (J:82221)

respiratory system
• increase in presumptive mesenchyme between the nasal capsule and the oral cavity (J:82221)
• increase in presumptive mesenchyme between the nasal capsule and the oral cavity (J:82221)
• nasal septum is reduced in size and there is agenesis or hypoplasia of the nasal septal cartilage (J:82221)
• nasal septum is reduced in size and there is agenesis or hypoplasia of the nasal septal cartilage (J:82221)

skeleton
• fusion of the premaxillary bone, resulting in severe pyriform aperture stenosis (J:82221)
• fusion of the premaxillary bone, resulting in severe pyriform aperture stenosis (J:82221)

nervous system
• microform holoprosencephaly (J:82221)
• microform holoprosencephaly (J:82221)

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
01/26/2016
MGI 6.02
The Jackson Laboratory