Phenotypes associated with this allele

• Allele Symbol: Nfkbia^tm1Stw
• Allele Name: targeted mutation 1, Colin Stewart
• Allele ID: MGI:3616190
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nfkbia^tm1Stw/Nfkbia^tm1Stw	involves: 129S1/Sv	MGI:3700172

Genotype
MGI:3700172

hm1

• Allelic Composition: Nfkbia^tm1Stw/Nfkbia^tm1Stw
• Genetic Background: involves: 129S1/Sv

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

mortality/aging

postnatal lethality, complete penetrance ( J:32527 )

• homozygotes fail to thrive which leads to death usually within 7-10 days after birth

growth/size/body

decreased body weight ( J:32527 )

postnatal growth retardation ( J:32527 )

• growth is normal for the first 3 days after birth, however thereafter, pups stop gaining weight, and by 6 days after birth, weigh about 1/3 as much as control littermates

immune system

abnormal myelopoiesis ( J:32527 )

• myelopoiesis is enhanced; hepatic myelopoietic areas adjacent to portal triads and terminal portal venules are enlarged

increased macrophage cell number ( J:32527 )

• the proportion of MAC-1+ monocytes/macrophages is increased

increased monocyte cell number ( J:32527 )

• the proportion of MAC-1+ monocytes/macrophages is increased

abnormal macrophage physiology ( J:32527 )

• macrophages exhibit increased activation as indicated by slightly, but consistently, elevated forward and side light scatter values

abnormal tumor necrosis factor level ( J:32527 )

• skin shows an increase in TNF-alpha levels

dermatitis ( J:32527 )

• exhibit a widespread dermatitis characterized by marked acanthosis (epidermal hyperplasia), hyperkeratosis, an absence of keratohyalin granules in the stratum granulosum, and the presence of numerous small to multiple and coalescing subcorneal and intracorneal neutrophilic microabscesses

• exhibit a diffuse epithelial transmigration of neutrophils and the Grenz zone is filled with mononuclear cells, principally macrophages

• dermatitis is unlikely to be caused by an infection as staining for various microorganisms is negative

hematopoietic system

abnormal erythropoiesis ( J:32527 )

• erythropoiesis is moderately depressed; diffusely distributed perisinusoidal erythropoietic islands are virtually absent

abnormal myelopoiesis ( J:32527 )

• myelopoiesis is enhanced; hepatic myelopoietic areas adjacent to portal triads and terminal portal venules are enlarged

extramedullary hematopoiesis ( J:32527 )

• splenic extramedullary hematopoiesis is enhanced

increased macrophage cell number ( J:32527 )

• the proportion of MAC-1+ monocytes/macrophages is increased

increased monocyte cell number ( J:32527 )

• the proportion of MAC-1+ monocytes/macrophages is increased

abnormal macrophage physiology ( J:32527 )

• macrophages exhibit increased activation as indicated by slightly, but consistently, elevated forward and side light scatter values

homeostasis/metabolism

abnormal tumor necrosis factor level ( J:32527 )

• skin shows an increase in TNF-alpha levels

integument

dermatitis ( J:32527 )

• exhibit a widespread dermatitis characterized by marked acanthosis (epidermal hyperplasia), hyperkeratosis, an absence of keratohyalin granules in the stratum granulosum, and the presence of numerous small to multiple and coalescing subcorneal and intracorneal neutrophilic microabscesses

• exhibit a diffuse epithelial transmigration of neutrophils and the Grenz zone is filled with mononuclear cells, principally macrophages

• dermatitis is unlikely to be caused by an infection as staining for various microorganisms is negative

abnormal epidermis stratum corneum morphology ( J:32527 )

• presence of numerous small to multiple and coalescing subcorneal and intracorneal neutrophilic microabscesses

hyperkeratosis ( J:32527 )

abnormal epidermis stratum granulosum morphology ( J:32527 )

• absence of keratohyalin granules in the stratum granulosum

acanthosis ( J:32527 )

abnormal keratinocyte morphology ( J:32527 )

• exhibit an increase in proliferating keratinocytes as indicated by an increase in keratin 14 and 16 staining in the suprabasal layer

dry skin ( J:32527 )

flaky skin ( J:32527 )

spontaneous skin ulceration ( J:32527 )

• a graduation from microabscessation to dermal ulceration is apparent

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atopic dermatitis		DOID:3310	OMIM:603165 OMIM:PS603165	J:32527