Phenotypes Associated with This Genotype

Genotype
MGI:4838220

• Allelic Composition: Nectin1^tm1Ytk/Nectin1⁺; Nectin3^tm1Ytk/Nectin3^tm1Ytk
• Genetic Background: involves: 129X1/SvJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

craniofacial

craniofacial phenotype ( J:165548 )

N • unlike human Cleft Lip/Palate-Ectodermal Dysplasia Syndrome 1 (CLPED1) patients, no mice with cleft palate are detected and all teeth are present

abnormal molar crown morphology ( J:165548 )

• at P10 the crown shape of the upper molars is conical and a defect in enamel formation is seen

conical molar ( J:165548 )

• at P10 the crown shape of the upper molars is conical

abnormal tooth development ( J:165548 )

• at P10 a defect in enamel formation is seen in the upper molars

abnormal ameloblast morphology ( J:165548 )

• at P10 the arrangement of the ameloblasts is abnormal and the ameloblast cell layer is detached from the stratum intermedium cell layer

• at P10 polarization of ameloblasts is impaired and ameloblasts are partially detached from each other

abnormal stellate reticulum morphology ( J:165548 )

• at P10 the stellate reticulum compartment of the epithelial enamel organ of the upper molars is hypoplastic

• at P10 cells in the stratum reticulum compartment have abnormal shapes and lack the normal cell junction structures

abnormal stratum intermedium morphology ( J:165548 )

• 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

abnormal molar crown morphology ( J:165548 )

• at P10 the crown shape of the upper molars is conical and a defect in enamel formation is seen

conical molar ( J:165548 )

• at P10 the crown shape of the upper molars is conical

abnormal tooth development ( J:165548 )

• at P10 a defect in enamel formation is seen in the upper molars

abnormal ameloblast morphology ( J:165548 )

• at P10 the arrangement of the ameloblasts is abnormal and the ameloblast cell layer is detached from the stratum intermedium cell layer

• at P10 polarization of ameloblasts is impaired and ameloblasts are partially detached from each other

abnormal stellate reticulum morphology ( J:165548 )

• at P10 the stellate reticulum compartment of the epithelial enamel organ of the upper molars is hypoplastic

• at P10 cells in the stratum reticulum compartment have abnormal shapes and lack the normal cell junction structures

abnormal stratum intermedium morphology ( J:165548 )

• 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

abnormal molar crown morphology ( J:165548 )

• at P10 the crown shape of the upper molars is conical and a defect in enamel formation is seen

conical molar ( J:165548 )

• at P10 the crown shape of the upper molars is conical

abnormal tooth development ( J:165548 )

• at P10 a defect in enamel formation is seen in the upper molars

abnormal ameloblast morphology ( J:165548 )

• at P10 the arrangement of the ameloblasts is abnormal and the ameloblast cell layer is detached from the stratum intermedium cell layer

• at P10 polarization of ameloblasts is impaired and ameloblasts are partially detached from each other

abnormal stellate reticulum morphology ( J:165548 )

• at P10 the stellate reticulum compartment of the epithelial enamel organ of the upper molars is hypoplastic

• at P10 cells in the stratum reticulum compartment have abnormal shapes and lack the normal cell junction structures

abnormal stratum intermedium morphology ( J:165548 )

• 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