All Phenotypes Nectin3<tm1Ytk> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nectin3^tm1Ytk/Nectin3^tm1Ytk	either: (involves: 129X1/SvJ * C57BL * DBA) or (involves: 129X1/SvJ * BALB/cA * C57BL * DBA)	MGI:3607451
hm2	Nectin3^tm1Ytk/Nectin3^tm1Ytk	involves: 129X1/SvJ	MGI:5306005
hm3	Nectin3^tm1Ytk/Nectin3^tm1Ytk	involves: 129X1/SvJ * C57BL/6	MGI:4838218
cx4	Nectin1^tm1Ytk/Nectin1^tm1Ytk Nectin3^tm1Ytk/Nectin3^tm1Ytk	involves: 129X1/SvJ * C57BL/6	MGI:4838219
cx5	Nectin1^tm1Ytk/Nectin1⁺ Nectin3^tm1Ytk/Nectin3^tm1Ytk	involves: 129X1/SvJ * C57BL/6	MGI:4838220
cx6	Nectin1^tm1Ytk/Nectin1^tm1Ytk Nectin3^tm1Ytk/Nectin3⁺	involves: 129X1/SvJ * C57BL/6	MGI:4838221

Allelic Composition	Nectin3^tm1Ytk/Nectin3^tm1Ytk
Genetic Background	either: (involves: 129X1/SvJ * C57BL * DBA) or (involves: 129X1/SvJ * BALB/cA * C57BL * DBA)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nectin3^tm1Ytk mutation (0 available); any Nectin3 mutation (26 available)

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

reproductive system

male infertility ( J:101707 )

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

microphthalmia ( J:101707 )

abnormal retina layer morphology ( J:101707 )

• retinal layers are undulating

abnormal vitreous body morphology ( J:101707 )

• vitreous body is absent

Allelic Composition	Nectin3^tm1Ytk/Nectin3^tm1Ytk
Genetic Background	involves: 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nectin3^tm1Ytk mutation (0 available); any Nectin3 mutation (26 available)

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

vision/eye

abnormal anterior eye segment morphology ( J:180113 )

abnormal aqueous humor ( J:180113 )

• absent

abnormal lens morphology ( J:180113 )

• slit-like separations in the central cortical region adjacent to the anterior epithelium

• slit-like separations in the peripheral region of fiber cells adjacent to the anterior epithelium

small lens ( J:180113 )

microphthalmia ( J:180113 )

• as observed at 1 day of age

abnormal vitreous body morphology ( J:180113 )

• vitreous humor is absent

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nectin3^tm1Ytk mutation (0 available); any Nectin3 mutation (26 available)

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

craniofacial

abnormal lower incisor color ( J:165548 )

• lower incisors are lightly pigmented

abnormal lower incisor morphology ( J:165548 )

• lower incisors display abnormal wear at the apex

skeleton

abnormal lower incisor color ( J:165548 )

• lower incisors are lightly pigmented

abnormal lower incisor morphology ( J:165548 )

• lower incisors display abnormal wear at the apex

growth/size/body

abnormal lower incisor color ( J:165548 )

• lower incisors are lightly pigmented

abnormal lower incisor morphology ( J:165548 )

• lower incisors display abnormal wear at the apex

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nectin1^tm1Ytk mutation (1 available); any Nectin1 mutation (12 available)
Nectin3^tm1Ytk mutation (0 available); any Nectin3 mutation (26 available)

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

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 )

♀	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

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

Find Mice

♀	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 polarization of ameloblasts is impaired

• at P10 the arrangement of the ameloblasts is abnormal

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

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

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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