Phenotypes associated with this allele

• Allele Symbol: Eda^em2Ywu
• Allele Name: endonuclease-mediated mutation 2, Yiqun Wu
• Allele ID: MGI:8209580
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Eda^em2Ywu/Eda^em2Ywu	C57BL/6J-Eda^em2Ywu	MGI:8209647
ot2	Eda^em2Ywu/Y	C57BL/6J-Eda^em2Ywu	MGI:8209645

Genotype
MGI:8209647

hm1

• Allelic Composition: Eda^em2Ywu/Eda^em2Ywu
• 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 taurodontism

abnormal molar cusp morphology ( J:363034 )

♀ • although 3 mandibular molars are present, the first lower molar is small with only four or normal seven cusps formed

small molars ( J:363034 )

♀ • the lower first molars are smaller

endocrine/exocrine glands

abnormal eccrine sweat gland morphology ( J:363034 )

♀ • mice exhibit very few sweat glands in the footpads

hypohidrosis ( J:363034 )

♀ • mice show defective sweating function

growth/size/body

taurodontia ( J:363034 )

♀ • the lower second molar exhibits taurodontism

abnormal molar cusp morphology ( J:363034 )

♀ • although 3 mandibular molars are present, the first lower molar is small with only four or normal seven cusps formed

small molars ( J:363034 )

♀ • the lower first molars are smaller

integument

abnormal eccrine sweat gland morphology ( J:363034 )

♀ • mice exhibit very few sweat glands in the footpads

hypohidrosis ( J:363034 )

♀ • mice show defective sweating function

sparse hair ( J:363034 )

♀ • scanty abdomen hair, ear hair, and hair around the eyes, but normal tail hair and tips

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 taurodontism

abnormal molar cusp morphology ( J:363034 )

♀ • although 3 mandibular molars are present, the first lower molar is small with only four or normal seven cusps formed

small molars ( J:363034 )

♀ • the lower first molars are smaller

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

Genotype
MGI:8209645

ot2

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

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