Phenotypes Associated with This Genotype

Genotype
MGI:8209645

• Allelic Composition: Eda^em2Ywu/Y
• Genetic Background: C57BL/6J-Eda^em2Ywu

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

craniofacial

taurodontia ( J:363034 )

♂ • the lower second molar exhibits a high incidence of taurodontism

abnormal molar cusp morphology ( J:363034 )

♂ • although all 3 mandibular molars are present, they show reduced and rounded cusps

small molars ( J:363034 )

♂ • the lower first molars are smaller with only 4 of normal 7 cusps formed

embryo

abnormal ectoderm morphology ( J:363034 )

♂ • mice display the most severe ectodermal organ development defects out of the three mutants generated and similar defects to knock-out mice but with a slightly milder phenotype

endocrine/exocrine glands

abnormal eccrine sweat gland morphology ( J:363034 )

♂ • mice exhibit very few sweat glands in the footpads

hypohidrosis ( J:363034 )

♂ • mice show almost no sweating function

growth/size/body

taurodontia ( J:363034 )

♂ • the lower second molar exhibits a high incidence of taurodontism

abnormal molar cusp morphology ( J:363034 )

♂ • although all 3 mandibular molars are present, they show reduced and rounded cusps

small molars ( J:363034 )

♂ • the lower first molars are smaller with only 4 of normal 7 cusps formed

integument

abnormal eccrine sweat gland morphology ( J:363034 )

♂ • mice exhibit very few sweat glands in the footpads

hypohidrosis ( J:363034 )

♂ • mice show almost no sweating function

sparse hair ( J:363034 )

♂ • scant abdomen hair and ear hair and reduced hair around the eye, but normal tail hair and tips

decreased hair follicle number ( J:363034 )

♂ • skin shows a decrease in the number of hair follicles

limbs/digits/tail

abnormal eccrine sweat gland morphology ( J:363034 )

♂ • mice exhibit very few sweat glands in the footpads

skeleton

taurodontia ( J:363034 )

♂ • the lower second molar exhibits a high incidence of taurodontism

abnormal molar cusp morphology ( J:363034 )

♂ • although all 3 mandibular molars are present, they show reduced and rounded cusps

small molars ( J:363034 )

♂ • the lower first molars are smaller with only 4 of normal 7 cusps formed

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