Phenotypes Associated with This Genotype

Genotype
MGI:4457887

hm1

• Allelic Composition: Adam17^woe/Adam17^woe
• Genetic Background: C57BL/6-Adam17^woe

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

vision/eye

absent Meibomian glands ( J:160781 )

increased incidence of corneal inflammation ( J:160781 )

• mice exhibit corneal keratitis unlike wild-type mice

abnormal anterior eye segment morphology ( J:160781 )

• mice exhibit anterior segment dysgenesis unlike wild-type mice

abnormal canal of Schlemm morphology ( J:160781 )

• mice exhibit small or absent canal of Schlemm compared with wild-type mice

absent Schlemm's canal ( J:160781 )

• in some mice

abnormal cornea morphology ( J:160781 )

anterior iris synechia ( J:160781 )

• variable

absent Descemet membrane ( J:160781 )

• in some mice

absent cornea endothelium ( J:160781 )

abnormal cornea epithelium morphology ( J:160781 )

• mice exhibit reduced corneal epithelium differentiation compared with wild-type mice

decreased cornea thickness ( J:160781 )

• with a less differentiated corneal epithelium

cornea opacity ( J:160781 )

cornea scarring ( J:160781 )

lens vacuoles ( J:160781 )

• vacuolated

aphakia ( J:160781 )

cataract ( J:160781 )

failure of eyelid fusion ( J:160781 )

• at E16.5

microphthalmia ( J:160781 )

abnormal eyelid margin morphology ( J:160781 )

• the eyelid margin exhibits excess pigment dispersal with the dermis unlike in wild-type mice

eyelids open at birth ( J:156373 , J:160781 )

abnormal retina morphology ( J:160781 )

• highly disorganized in mice with aphakia

anophthalmia ( J:160781 )

• unilateral or bilateral in some mice

cardiovascular system

enlarged heart ( J:156373 )

abnormal heart valve morphology ( J:160781 )

enlarged aortic valve ( J:160781 )

aortic valve hypertrophy ( J:160781 )

• hypertrophic and thickened

thick aortic valve ( J:160781 )

• hypertrophic and thickened

enlarged pulmonary valve ( J:160781 )

pulmonary valve hypertrophy ( J:160781 )

• hypertrophic and thickened

thick pulmonary valve ( J:160781 )

• hypertrophic and thickened

pathological neovascularization ( J:160781 )

• in the eye

digestive/alimentary system

digestive/alimentary phenotype ( J:160781 )

N • mice exhibit normal esophagi

enlarged esophagus ( J:156373 )

endocrine/exocrine glands

absent Meibomian glands ( J:160781 )

immune system

increased incidence of corneal inflammation ( J:160781 )

• mice exhibit corneal keratitis unlike wild-type mice

dermatitis ( J:160781 )

• chronic

integument

absent Meibomian glands ( J:160781 )

dermatitis ( J:160781 )

• chronic

waved hair ( J:156373 , J:160781 )

abnormal hair follicle development ( J:160781 )

• variable

growth/size/body

enlarged heart ( J:156373 )

enlarged esophagus ( J:156373 )