Phenotypes Associated with This Genotype

Genotype
MGI:8209591

• Allelic Composition: Eda^em4Ywu/Y
• Genetic Background: C57BL/6J-Eda^em4Ywu

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

embryo

abnormal ectoderm morphology ( J:363034 )

♂ • mice exhibit ectodermal dysplasia

craniofacial

craniofacial phenotype ( J:363034 )

♂N • no substantial craniomaxillofacial deformities are seen

taurodontia ( J:363034 )

♂ • the lower second molar shows a high incidence of taurodontism with a very large pulp chamber

abnormal molar cusp morphology ( J:363034 )

♂ • the lower first molar is small with only 3 rounded cusps compared to wild-type mice that have 7 deep and well-defined cusps linked by transverse crests

decreased molar number ( J:363034 )

♂ • mice have only two mandibular molars with the third molar missing

small molars ( J:363034 )

♂ • the lower first molar is small

endocrine/exocrine glands

absent eccrine glands ( J:363034 )

♂ • mice exhibit no eccrine sweat glands in the footpads

hypohidrosis ( J:363034 )

♂ • mice show a severe defect in sweating ability

growth/size/body

taurodontia ( J:363034 )

♂ • the lower second molar shows a high incidence of taurodontism with a very large pulp chamber

abnormal molar cusp morphology ( J:363034 )

♂ • the lower first molar is small with only 3 rounded cusps compared to wild-type mice that have 7 deep and well-defined cusps linked by transverse crests

decreased molar number ( J:363034 )

♂ • mice have only two mandibular molars with the third molar missing

small molars ( J:363034 )

♂ • the lower first molar is small

integument

absent eccrine glands ( J:363034 )

♂ • mice exhibit no eccrine sweat glands in the footpads

hypohidrosis ( J:363034 )

♂ • mice show a severe defect in sweating ability

sparse hair ( J:363034 )

♂ • mice have hairless tails and abdomen, a bald patch behind ears, and scant hair around the eyes

decreased hair follicle number ( J:363034 )

♂ • decrease in the density of hair follicles in the abdominal skin, indicating affected hair development

limbs/digits/tail

absent eccrine glands ( J:363034 )

♂ • mice exhibit no eccrine sweat glands in the footpads

hairless tail ( J:363034 )

♂

kinked tail ( J:363034 )

♂ • mice exhibit kinked tail tips

skeleton

taurodontia ( J:363034 )

♂ • the lower second molar shows a high incidence of taurodontism with a very large pulp chamber

abnormal molar cusp morphology ( J:363034 )

♂ • the lower first molar is small with only 3 rounded cusps compared to wild-type mice that have 7 deep and well-defined cusps linked by transverse crests

decreased molar number ( J:363034 )

♂ • mice have only two mandibular molars with the third molar missing

small molars ( J:363034 )

♂ • the lower first molar is small

vision/eye

abnormal eyelid development ( J:363034 )

♂

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ectodermal dysplasia 1		DOID:0111664	OMIM:305100	J:363034