Phenotypes associated with this allele

• Allele Symbol: Nectin1^tm1Ytk
• Allele Name: targeted mutation 1, Yoshimi Takai
• Allele ID: MGI:3605480
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nectin1^tm1Ytk/Nectin1^tm1Ytk	either: (involves: 129X1/SvJ * C57BL * DBA) or (involves: 129X1/SvJ * BALB/cA * C57BL * DBA)	MGI:3607448
hm2	Nectin1^tm1Ytk/Nectin1^tm1Ytk	involves: 129X1/SvJ * C57BL/6	MGI:4838217
cx3	Nectin1^tm1Ytk/Nectin1^tm1Ytk Nectin3^tm1Ytk/Nectin3^tm1Ytk	involves: 129X1/SvJ * C57BL/6	MGI:4838219
cx4	Nectin1^tm1Ytk/Nectin1^+ Nectin3^tm1Ytk/Nectin3^tm1Ytk	involves: 129X1/SvJ * C57BL/6	MGI:4838220
cx5	Nectin1^tm1Ytk/Nectin1^tm1Ytk Nectin3^tm1Ytk/Nectin3^+	involves: 129X1/SvJ * C57BL/6	MGI:4838221

Genotype
MGI:3607448

hm1

• Allelic Composition: Nectin1^tm1Ytk/Nectin1^tm1Ytk
• Genetic Background: either: (involves: 129X1/SvJ * C57BL * DBA) or (involves: 129X1/SvJ * BALB/cA * C57BL * DBA)

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

vision/eye

abnormal anterior eye segment morphology ( J:101707 )

abnormal ciliary epithelium morphology ( J:101707 )

• ciliary epithelia adhere to the lens

• separation of the apex-apex contact between the pigment and non-pigment cell layers of the ciliary epithelia at E16.5, however no impairment of the apicolateral junctions between the pigment epithelia or the apicolateral junctions between the non-pigment epithelia

absent ciliary process ( J:101707 )

• ciliary processes are absent

abnormal lens morphology ( J:101707 )

• lenses are somewhat deformed

failure of eyelid fusion ( J:101707 )

• eyelids are not fused at E16.5 as in wild-type

microphthalmia ( J:101707 )

eyelids open at birth ( J:101707 )

• about 30% of pups are born with one or both eyes open

abnormal retina layer morphology ( J:101707 )

• retinal layers are undulating

abnormal vitreous body morphology ( J:101707 )

• vitreous body is absent

Genotype
MGI:4838217

hm2

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

craniofacial

abnormal lower incisor color ( J:165548 )

• lower incisors are chalky white

abnormal lower incisor morphology ( J:165548 )

• lower incisors display abnormal wear at the apex

abnormal molar crown morphology ( J:165548 )

• occlusal surfaces show massive wear resulting in the absence of cusps on the 2nd and 3rd molar

small molars ( J:165548 )

• smaller lower molars in keeping with smaller body size

skeleton

abnormal lower incisor color ( J:165548 )

• lower incisors are chalky white

abnormal lower incisor morphology ( J:165548 )

• lower incisors display abnormal wear at the apex

abnormal molar crown morphology ( J:165548 )

• occlusal surfaces show massive wear resulting in the absence of cusps on the 2nd and 3rd molar

small molars ( J:165548 )

• smaller lower molars in keeping with smaller body size

growth/size/body

abnormal lower incisor color ( J:165548 )

• lower incisors are chalky white

abnormal lower incisor morphology ( J:165548 )

• lower incisors display abnormal wear at the apex

abnormal molar crown morphology ( J:165548 )

• occlusal surfaces show massive wear resulting in the absence of cusps on the 2nd and 3rd molar

small molars ( J:165548 )

• smaller lower molars in keeping with smaller body size

decreased body size ( J:165548 )

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

Genotype
MGI:4838219

cx3

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:165548 )

• only 1 double mutant was found after E17

behavior/neurological

weakness ( J:165548 )

• become progressively weaker with age starting at P5

homeostasis/metabolism

impaired skin barrier function ( J:165548 )

integument

impaired skin barrier function ( J:165548 )

Genotype
MGI:4838220

cx4

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

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

Genotype
MGI:4838221

cx5

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

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

• at P10 minor ruptures between the ameloblast and stratum intermedium cell layers are detected

• at P10 polarization of ameloblasts is impaired

abnormal stellate reticulum morphology ( J:165548 )

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

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

• at P10 minor ruptures between the ameloblast and stratum intermedium cell layers are detected

• at P10 polarization of ameloblasts is impaired

abnormal stellate reticulum morphology ( J:165548 )

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

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

• at P10 minor ruptures between the ameloblast and stratum intermedium cell layers are detected

• at P10 polarization of ameloblasts is impaired

abnormal stellate reticulum morphology ( J:165548 )

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

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