Mouse Genome Informatics
hm
    Nfkbiztm1Mamo/Nfkbiztm1Mamo
involves: 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Allergic dermatitis in Nfkbiztm1Mamo/Nfkbiztm1Mamo mice

mortality/aging
• about 90% of homozygotes die before birth

behavior/neurological
• mutants scratch their faces

immune system
• serum IgE is 2.4 fold higher in mutants compared to wild-type mice
• 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
• at 4-8 weeks of age eyelid swelling is seen

integument
• 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
• mutants develop progressive alopecia beginning in the periocular area and extending to the skin of the face, neck, and parts of the ventral trunk
• 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
• mild hyperkeratosis is seen in the facial skin of young mutants with acute eczema and worsens with age
• seen in older mutants
• seen in facial skin of mutants with acute eczema and worsens with age
• at 4-8 weeks of age mutants develop thickening and scaling of the periocular skin
• older mutants have partial ulceration and scabbing on the skin surface
• 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
• serum IgE is 2.4 fold higher in mutants compared to wild-type mice

Mouse Models of Human Disease
OMIM IDRef(s)
Dermatitis, Atopic 603165 J:95040