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Phenotypes Associated with This Genotype
Genotype
MGI:4838221
Allelic
Composition
Nectin1tm1Ytk/Nectin1tm1Ytk
Nectin3tm1Ytk/Nectin3+
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nectin1tm1Ytk mutation (1 available); any Nectin1 mutation (22 available)
Nectin3tm1Ytk mutation (0 available); any Nectin3 mutation (44 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
N
• unlike human Cleft Lip/Palate-Ectodermal Dysplasia Syndrome 1 (CLPED1) patients, no mice with cleft palate are detected and all teeth are present
• at P10 the crown shape of the upper molars is conical and a defect in enamel formation is seen
• at P10 the crown shape of the upper molars is conical
• at P10 a defect in enamel formation is seen in the upper molars
• at P10 the arrangement of the ameloblasts is abnormal
• at P10 minor ruptures between the ameloblast and stratum intermedium cell layers are detected
• at P10 polarization of ameloblasts is impaired
• at P10 the stellate reticulum compartment of the epithelial enamel organ of the upper molars is hypoplastic
• at P10 the stratum intermedium cell layer of the epithelial enamel organ of the upper molars is hypoplastic
• at P10 expression analysis indicates abnormalities in the adherens junctions and desmosomes in the stratum intermedium cell layer
• at P10 blood vessels are absent from the stratum intermedium

skeleton
• at P10 the crown shape of the upper molars is conical and a defect in enamel formation is seen
• at P10 the crown shape of the upper molars is conical
• at P10 a defect in enamel formation is seen in the upper molars
• at P10 the arrangement of the ameloblasts is abnormal
• at P10 minor ruptures between the ameloblast and stratum intermedium cell layers are detected
• at P10 polarization of ameloblasts is impaired
• at P10 the stellate reticulum compartment of the epithelial enamel organ of the upper molars is hypoplastic
• at P10 the stratum intermedium cell layer of the epithelial enamel organ of the upper molars is hypoplastic
• at P10 expression analysis indicates abnormalities in the adherens junctions and desmosomes in the stratum intermedium cell layer
• at P10 blood vessels are absent from the stratum intermedium

growth/size/body
• at P10 the crown shape of the upper molars is conical and a defect in enamel formation is seen
• at P10 the crown shape of the upper molars is conical
• at P10 a defect in enamel formation is seen in the upper molars
• at P10 the arrangement of the ameloblasts is abnormal
• at P10 minor ruptures between the ameloblast and stratum intermedium cell layers are detected
• at P10 polarization of ameloblasts is impaired
• at P10 the stellate reticulum compartment of the epithelial enamel organ of the upper molars is hypoplastic
• at P10 the stratum intermedium cell layer of the epithelial enamel organ of the upper molars is hypoplastic
• at P10 expression analysis indicates abnormalities in the adherens junctions and desmosomes in the stratum intermedium cell layer
• at P10 blood vessels are absent from the stratum intermedium

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
NOT cleft lip-palate-ectodermal dysplasia syndrome DOID:0060773 OMIM:225060
J:165548


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
07/05/2024
MGI 6.24
The Jackson Laboratory