Phenotypes Associated with This Genotype

Genotype
MGI:3526428

• Allelic Composition: Nfkbiz^tm1Mamo/Nfkbiz^tm1Mamo
• Genetic Background: involves: 129S7/SvEvBrd

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

Allergic dermatitis in Nfkbiz^tm1Mamo/Nfkbiz^tm1Mamo mice

mortality/aging

prenatal lethality, incomplete penetrance ( J:95040 )

• about 90% of homozygotes die before birth

behavior/neurological

excessive scratching ( J:95040 )

• mutants scratch their faces

immune system

increased IgE level ( J:95040 )

• serum IgE is 2.4 fold higher in mutants compared to wild-type mice

dermatitis ( J:95040 )

• young mice (40-70 days old) have mononuclear infiltrates in the epidermis and superficial dermis

• older mutants (more than 160 days of age) have severe chronic eczema with infiltrates containing mononuclear cells, lymphoid cells, melanophages, neutrophils, mast cells, and eosinophils

vision/eye

eyelid edema ( J:95040 )

• at 4-8 weeks of age eyelid swelling is seen

integument

dermatitis ( J:95040 )

• young mice (40-70 days old) have mononuclear infiltrates in the epidermis and superficial dermis

• older mutants (more than 160 days of age) have severe chronic eczema with infiltrates containing mononuclear cells, lymphoid cells, melanophages, neutrophils, mast cells, and eosinophils

alopecia ( J:95040 )

• mutants develop progressive alopecia beginning in the periocular area and extending to the skin of the face, neck, and parts of the ventral trunk

abnormal skin morphology ( J:95040 )

• in older mutants severe dermatitis leads to destruction of the skin appendages including hair, sebaceous glands, nails, and sweat glands, and the cutaneous muscle layer

hyperkeratosis ( J:95040 )

• mild hyperkeratosis is seen in the facial skin of young mutants with acute eczema and worsens with age

parakeratosis ( J:95040 )

• seen in older mutants

acanthosis ( J:95040 )

• seen in facial skin of mutants with acute eczema and worsens with age

scaly skin ( J:95040 )

• at 4-8 weeks of age mutants develop thickening and scaling of the periocular skin

spontaneous skin ulceration ( J:95040 )

• older mutants have partial ulceration and scabbing on the skin surface

abnormal skin condition ( J:95040 )

thick skin ( J:95040 )

• at 4-8 weeks of age mutants develop thickening and scaling of the periocular skin

• progressive thickening of the skin is seen as mutants age

hematopoietic system

increased IgE level ( J:95040 )

• serum IgE is 2.4 fold higher in mutants compared to wild-type mice

homeostasis/metabolism

eyelid edema ( J:95040 )

• at 4-8 weeks of age eyelid swelling is seen

craniofacial

eyelid edema ( J:95040 )

• at 4-8 weeks of age eyelid swelling is seen

growth/size/body

eyelid edema ( J:95040 )

• at 4-8 weeks of age eyelid swelling is seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atopic dermatitis		DOID:3310	OMIM:603165 OMIM:PS603165	J:95040