Phenotypes Associated with This Genotype

Genotype
MGI:5559357

• Allelic Composition: Tmem79^ma/Tmem79^ma
• Genetic Background: B6.CBACaGr-Tmem79^ma/J

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

integument

impaired skin barrier function ( J:202453 )

• increased transepidermal water loss

skin inflammation ( J:202453 )

• marked skin inflammation with a broad spectrum of pathologies

• some mice exhibit profound lesions and excoriation

• skin inflammation following treatment with house dust might allergen is enhanced

dermatitis ( J:202453 )

• spontaneous, progressive dermatitis-like skin inflammation

• spontaneous atopic dermatitis

abnormal coat appearance ( J:202453 )

alopecia ( J:202453 )

• occasional at 32 weeks of age

brittle hair ( J:202453 )

• hair breakage at 32 weeks of age

matted coat ( J:202453 )

abnormal hair cortex keratinization ( J:202453 )

• keratinization defects

abnormal hair follicle development ( J:202453 )

• distorted hair follicle morphogenesis

abnormal corneocyte envelope morphology ( J:202453 )

• cornified cell envelopes are discontinuous, uneven, and highly disorganized

orthokeratosis ( J:202453 )

• prominent, with dermal inflammatory infiltrates

acanthosis ( J:202453 )

• marked

immune system

increased IgE level ( J:202453 )

blepharitis ( J:202453 )

• occasional blepharitis and eyelid dermatitis in some mice

skin inflammation ( J:202453 )

• marked skin inflammation with a broad spectrum of pathologies

• some mice exhibit profound lesions and excoriation

• skin inflammation following treatment with house dust might allergen is enhanced

dermatitis ( J:202453 )

• spontaneous, progressive dermatitis-like skin inflammation

• spontaneous atopic dermatitis

vision/eye

blepharitis ( J:202453 )

• occasional blepharitis and eyelid dermatitis in some mice

hematopoietic system

increased IgE level ( J:202453 )

homeostasis/metabolism

impaired skin barrier function ( J:202453 )

• increased transepidermal water loss

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atopic dermatitis		DOID:3310	OMIM:603165 OMIM:PS603165	J:202453