Phenotypes associated with this allele

• Allele Symbol: Edar^dl
• Allele Name: downless
• Allele ID: MGI:1856016
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Edar^dl/Edar^dl	A/H-Edar^dl	MGI:3693946
hm2	Edar^dl/Edar^dl	involves: A/H	MGI:3693941
ht3	Edar^dl/Edar^+	involves: A/H	MGI:3693948

Genotype
MGI:3693946

hm1

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

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

mortality/aging

preweaning lethality, complete penetrance ( J:18293 )

• no animals survive to weaning

craniofacial

abnormal incisor morphology ( J:5139 , J:18293 )

• incisors may be abnormal or absent (J:5139)

• animals cannot eat properly due to defects in incisors (J:18293)

absent incisors ( J:5139 )

• incisors may be absent or abnormal

abnormal molar morphology ( J:5139 )

integument

abnormal coat/ hair morphology ( J:5859 , J:18293 )

• mice have only one hair type, an abnormal awl (J:5859)

• appearance resembles homozygous and hemizygous Eda^Ta mice (J:18293)

absent auchene hairs ( J:5859 )

abnormal awl hair morphology ( J:5859 )

• mice have only this hair type

abnormal coat appearance ( J:5139 )

• bald patches behind the ears and bald tail

abnormal hair growth ( J:5139 )

sparse hair ( J:5139 )

shiny fur ( J:5139 )

absent duvet hair ( J:5859 )

absent guard hair ( J:5859 )

absent zigzag hairs ( J:5859 )

growth/size/body

abnormal incisor morphology ( J:5139 , J:18293 )

• incisors may be abnormal or absent (J:5139)

• animals cannot eat properly due to defects in incisors (J:18293)

absent incisors ( J:5139 )

• incisors may be absent or abnormal

abnormal molar morphology ( J:5139 )

skeleton

abnormal incisor morphology ( J:5139 , J:18293 )

• incisors may be abnormal or absent (J:5139)

• animals cannot eat properly due to defects in incisors (J:18293)

absent incisors ( J:5139 )

• incisors may be absent or abnormal

abnormal molar morphology ( J:5139 )

Genotype
MGI:3693941

hm2

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

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

Genotype
MGI:3693948

ht3

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

craniofacial

abnormal tooth morphology ( J:5139 )

• heterozygotes may have mutant teeth, normal teeth or teeth combining mutant and normal characteristics

supernumerary teeth ( J:5139 )

• additional molar tooth is a rare occurence

growth/size/body

abnormal tooth morphology ( J:5139 )

• heterozygotes may have mutant teeth, normal teeth or teeth combining mutant and normal characteristics

supernumerary teeth ( J:5139 )

• additional molar tooth is a rare occurence

skeleton

abnormal tooth morphology ( J:5139 )

• heterozygotes may have mutant teeth, normal teeth or teeth combining mutant and normal characteristics

supernumerary teeth ( J:5139 )

• additional molar tooth is a rare occurence