Phenotypes Associated with This Genotype

Genotype
MGI:3693941

• Allelic Composition: Edar^dl/Edar^dl
• Genetic Background: involves: A/H

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

skeleton

small incisors ( J:5139 )

• mice have reduced incisors

decreased molar number ( J:5139 )

• third molars are sometimes absent

small molars ( J:5139 )

• mice have reduced molars

craniofacial

small incisors ( J:5139 )

• mice have reduced incisors

decreased molar number ( J:5139 )

• third molars are sometimes absent

small molars ( J:5139 )

• mice have reduced molars

limbs/digits/tail

hairless tail ( J:5139 , J:5859 )

• hair is mostly absent on tail (J:5139)

• hair is absent on tail (J:5859)

kinked tail ( J:5139 )

• some homozygotes have a tail kinked towards the tip

cellular

increased apoptosis ( J:116222 )

• after depilation, outer root sheaths of catagen II to III HFs exhibit increased apoptosis compaired to wild-type; follicular outer root sheaths of catagen III HFs have increased caspase-3 activity in mutants but not in wild-type

integument

abnormal coat/ hair morphology ( J:5859 )

• instead of normal 4 types of hair, mutants have only one type of abnormal hair

abnormal awl hair morphology ( J:5859 )

• single type of hair in mutants resembles an abnormal awl hair

abnormal hair growth ( J:116222 )

focal hair loss ( J:5139 )

• mice have bald patch behind each ear

abnormal hair texture ( J:5139 )

absent guard hair ( J:116222 )

absent zigzag hairs ( J:116222 )

abnormal hair follicle development ( J:116222 )

• hair follicles (HF) show accelerated hair cycle and increased apoptosis in mutants after depilation

abnormal vibrissa number ( J:5139 )

• mice have reduced complement of vibrissae

abnormal hair cycle ( J:116222 )

• after depilation, mutants display normal anagen development and new hair formation

• mutants show accelerated entry into catagen by 15 days after depilation, and significantly accelerated catagen progression; by 17, most hair follicles (HF) are in mid- to late catagen stages, whereas wild-type control HFs are still at beginning of catagen

• by days 19 and 20, most HFs in mutants are in telogen, while wild-type HFs are only in late catagen

growth/size/body

small incisors ( J:5139 )

• mice have reduced incisors

decreased molar number ( J:5139 )

• third molars are sometimes absent

small molars ( J:5139 )

• mice have reduced molars

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypohidrotic ectodermal dysplasia		DOID:14793		J:116222