All Phenotypes Nfkbiz<tm1Aki> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nfkbiz^tm1Aki/Nfkbiz^tm1Aki	C.129P2-Nfkbiz^tm1Aki	MGI:3819765
hm2	Nfkbiz^tm1Aki/Nfkbiz^tm1Aki	involves: 129P2/OlaHsd	MGI:3047105
cx3	Nfkbiz^tm1Aki/Nfkbiz^tm1Aki Stat6^tm1Aki/Stat6^tm1Aki	C.129P2-Stat6^tm1Aki Nfkbiz^tm1Aki	MGI:3819766
cx4	Nfkbiz^tm1Aki/Nfkbiz⁺ Stat6^tm1Aki/Stat6^tm1Aki	C.129P2-Stat6^tm1Aki Nfkbiz^tm1Aki	MGI:3819767
cx5	Nfkbiz^tm1Aki/Nfkbiz^tm1Aki Rag2^tm1Fwa/Rag2^tm1Fwa	involves: 129P2/OlaHsd * 129S/SvEv	MGI:5501494
cx6	Nfkbiz^tm1Aki/Nfkbiz^tm1Aki Tnf^tm1Sek/Tnf^tm1Sek	involves: 129P2/OlaHsd * C57BL/6NCrlj * CBA/JNCrlj	MGI:5501495

Allelic Composition	Nfkbiz^tm1Aki/Nfkbiz^tm1Aki
Genetic Background	C.129P2-Nfkbiz^tm1Aki

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfkbiz^tm1Aki mutation (0 available); any Nfkbiz mutation (33 available)

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:141704 )

• Background Sensitivity: 70% of mice die in utero, which is more than on a mixed 129P2/OlaHsd C57BL/6 mixed background

vision/eye

eye inflammation ( J:141704 )

• inflammation of the ocular surfaces is accompanied by eye lid swelling, alopecia and abnormal hair growth around the eye

blepharitis ( J:141704 )

• at 4 to 6 weeks of age, mice develop inflammation of the eye lids

• many CD4+ cells, some CD8+ cells and few CD45R/B220+ cells infiltrate the skin of the eyelids

conjunctivitis ( J:141704 )

• 2 weeks after the onset of symptoms, mice exhibit infiltration of the submucosal area of the conjunctiva with inflammatory cells

• inflammatory cells in the conjunctival tissue are CD4+ and CD45%/B220+ while CD8+ cells are only detected in the conjunctival epithelium

decreased conjunctiva goblet cell number ( J:141704 )

• 2 weeks after the onset of symptoms, mice exhibit severe decrease in the number of goblet cells in the conjunctival epithelia

immune system

increased IgE level ( J:141704 )

• 10 weeks after the onset of symptoms, IgE levels are higher than in wild-type mice

• however, IgE levels prior to 10 weeks after the onset of symptoms is normal

eye inflammation ( J:141704 )

• inflammation of the ocular surfaces is accompanied by eye lid swelling, alopecia and abnormal hair growth around the eye

blepharitis ( J:141704 )

• at 4 to 6 weeks of age, mice develop inflammation of the eye lids

• many CD4+ cells, some CD8+ cells and few CD45R/B220+ cells infiltrate the skin of the eyelids

conjunctivitis ( J:141704 )

• 2 weeks after the onset of symptoms, mice exhibit infiltration of the submucosal area of the conjunctiva with inflammatory cells

• inflammatory cells in the conjunctival tissue are CD4+ and CD45%/B220+ while CD8+ cells are only detected in the conjunctival epithelium

skin inflammation ( J:141704 )

• at 6 weeks of age, mice exhibit heavy infiltrate of inflammatory cells into the dermis

dermatitis ( J:141704 )

• mice develop progressive dermatitis that lichenifies

perioral dermatitis ( J:141704 )

• at 9 weeks of age, mice exhibit inflammation of the perioral skin

• perioral inflammation is accompanied by erythema with excoriation and partial hair loss

• CD4+ and CD8+ cells infiltrate the dermis and epidermis around the mouth while many CD4+ cells, some CD8+ cells and few CD45R/B220+ cells infiltrate the skin of the eyelids

• however, dorsal and abdominal skin does not develop inflammation

homeostasis/metabolism

skin edema ( J:141704 )

• at 6 weeks of age, mice exhibit inter- and intracellular edema of the epidermis around the mouth and eyes

integument

skin edema ( J:141704 )

• at 6 weeks of age, mice exhibit inter- and intracellular edema of the epidermis around the mouth and eyes

skin inflammation ( J:141704 )

• at 6 weeks of age, mice exhibit heavy infiltrate of inflammatory cells into the dermis

dermatitis ( J:141704 )

• mice develop progressive dermatitis that lichenifies

perioral dermatitis ( J:141704 )

• at 9 weeks of age, mice exhibit inflammation of the perioral skin

• perioral inflammation is accompanied by erythema with excoriation and partial hair loss

• CD4+ and CD8+ cells infiltrate the dermis and epidermis around the mouth while many CD4+ cells, some CD8+ cells and few CD45R/B220+ cells infiltrate the skin of the eyelids

• however, dorsal and abdominal skin does not develop inflammation

abnormal hair growth ( J:141704 )

• eye inflammation is accompanied by abnormal hair growth around the eyes

alopecia ( J:141704 )

• eye and perioral inflammation is accompanied by loss of hair around the sites of inflammation

abnormal epidermal layer morphology ( J:141704 )

• at 6 weeks of age, mice exhibit spongiosis in the epidermis around the mouth and eyes

epidermal hyperplasia ( J:141704 )

• at 6 weeks of age, mice exhibit epidermal hyperplasia around the mouth and eyes

reddish skin ( J:141704 )

• perioral inflammation is accompanied by erythema with excoriation

hematopoietic system

increased IgE level ( J:141704 )

• 10 weeks after the onset of symptoms, IgE levels are higher than in wild-type mice

• however, IgE levels prior to 10 weeks after the onset of symptoms is normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Stevens-Johnson syndrome		DOID:0050426		J:141704

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

immune system

abnormal lymphocyte morphology ( J:194832 )

• increased numbers of T and B cells

abnormal T-helper 1 cell morphology ( J:194832 )

• Th1 response in spleen and cervical lymph nodes indicated by IFN gamma and IL17 staining

abnormal immune system organ morphology ( J:194832 )

enlarged spleen ( J:194832 )

• eventually develop splenomegaly

abnormal lymph node cell ratio ( J:194832 )

• memory or activated T cells increase in cervical lymph nodes

enlarged lymph nodes ( J:194832 )

• eventually develop lymphadenopathy

abnormal immune system physiology ( J:194832 )

lacrimal gland inflammation ( J:194832 )

• extra orbital lacrimal glands are inflamed

• periductal infiltration of CD4+ T cells and B cells

abnormal leukocyte physiology ( J:91297 )

• splenocytes show a defective proliferative response to lipopolysaccharide but not to CD40, Il4 or anti-IgM

increased immunoglobulin level ( J:194832 )

• elevated serum immune globulins

• high titers of antinuclear antibodies

abnormal cytokine secretion ( J:91297 )

decreased interleukin-12 secretion ( J:91297 )

• in vivo production of Il12 impaired

decreased interleukin-6 secretion ( J:91297 )

• impaired production in macrophages but in vivo levels near normal

abnormal tumor necrosis factor secretion ( J:91297 )

• prolonged TNF alpha production

eye inflammation ( J:96363 )

• at 12 weeks of age mice develop spontaneous inflammation of the ocular surface unlike in wild-type mice

blepharitis ( J:96363 )

conjunctivitis ( J:96363 )

• at 4 weeks of age, mice exhibit infiltration of inflammatory cells into the conjunctival epithelia

• at 14 weeks of age, mice exhibit heavy inflammatory cell infiltration in the submucosal areas of the conjunctiva

corneal limbitis ( J:96363 )

• at 14 weeks of age, mice exhibit moderate infiltration of the corneal limbus

interstitial pneumonia ( J:194832 )

• often present in aged mice

dermatitis ( J:91297 , J:194832 )

• atopic dermatitis-like skin lesions in some mice at 4-5 weeks of age, in all mice by 10 weeks (J:91297)

• mostly in the periocular region initially (J:194832)

• eventually spreads over the whole face with skin erosion and hair loss (J:194832)

periocular dermatitis ( J:194832 )

• dermatitis mostly in the periocular region initially

vision/eye

increased lacrimal gland apoptosis ( J:194832 )

• increased apoptosis

eyelid edema ( J:194832 )

• swelling as early as 2 weeks of age

• inflammatory effects in all mice by 8 weeks

lacrimal gland inflammation ( J:194832 )

• extra orbital lacrimal glands are inflamed

• periductal infiltration of CD4+ T cells and B cells

eye inflammation ( J:96363 )

• at 12 weeks of age mice develop spontaneous inflammation of the ocular surface unlike in wild-type mice

blepharitis ( J:96363 )

conjunctivitis ( J:96363 )

• at 4 weeks of age, mice exhibit infiltration of inflammatory cells into the conjunctival epithelia

• at 14 weeks of age, mice exhibit heavy inflammatory cell infiltration in the submucosal areas of the conjunctiva

corneal limbitis ( J:96363 )

• at 14 weeks of age, mice exhibit moderate infiltration of the corneal limbus

abnormal conjunctiva goblet cell morphology ( J:91297 )

• lymphocyte infiltration and loss of goblet cells in the submucosa of the conjunctival epithelium

decreased conjunctiva goblet cell number ( J:96363 )

• at 4 weeks, mild loss of goblet cells is observed in the conjunctival epithelia

• at 14 weeks, mice exhibit degeneration and loss of goblet cells in the conjunctival epithelia of both the palpebral and bulbar conjunctiva

decreased tear production ( J:194832 )

• reduced tear secretion

integument

dermatitis ( J:91297 , J:194832 )

• atopic dermatitis-like skin lesions in some mice at 4-5 weeks of age, in all mice by 10 weeks (J:91297)

• mostly in the periocular region initially (J:194832)

• eventually spreads over the whole face with skin erosion and hair loss (J:194832)

periocular dermatitis ( J:194832 )

• dermatitis mostly in the periocular region initially

skin lesions ( J:96363 )

• some mice develop dermatitis-like skin lesions

homeostasis/metabolism

eyelid edema ( J:194832 )

• swelling as early as 2 weeks of age

• inflammatory effects in all mice by 8 weeks

endocrine/exocrine glands

increased lacrimal gland apoptosis ( J:194832 )

• increased apoptosis

lacrimal gland inflammation ( J:194832 )

• extra orbital lacrimal glands are inflamed

• periductal infiltration of CD4+ T cells and B cells

hematopoietic system

enlarged spleen ( J:194832 )

• eventually develop splenomegaly

abnormal lymphocyte morphology ( J:194832 )

• increased numbers of T and B cells

abnormal T-helper 1 cell morphology ( J:194832 )

• Th1 response in spleen and cervical lymph nodes indicated by IFN gamma and IL17 staining

abnormal leukocyte physiology ( J:91297 )

• splenocytes show a defective proliferative response to lipopolysaccharide but not to CD40, Il4 or anti-IgM

increased immunoglobulin level ( J:194832 )

• elevated serum immune globulins

• high titers of antinuclear antibodies

respiratory system

interstitial pneumonia ( J:194832 )

• often present in aged mice

cellular

increased lacrimal gland apoptosis ( J:194832 )

• increased apoptosis

growth/size/body

eyelid edema ( J:194832 )

• swelling as early as 2 weeks of age

• inflammatory effects in all mice by 8 weeks

enlarged spleen ( J:194832 )

• eventually develop splenomegaly

craniofacial

eyelid edema ( J:194832 )

• swelling as early as 2 weeks of age

• inflammatory effects in all mice by 8 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Stevens-Johnson syndrome		DOID:0050426		J:96363

Allelic Composition	Nfkbiz^tm1Aki/Nfkbiz^tm1Aki Stat6^tm1Aki/Stat6^tm1Aki
Genetic Background	C.129P2-Stat6^tm1Aki Nfkbiz^tm1Aki

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfkbiz^tm1Aki mutation (0 available); any Nfkbiz mutation (33 available)
Stat6^tm1Aki mutation (7 available); any Stat6 mutation (51 available)

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

immune system

eye inflammation ( J:141704 )

• mice exhibit heavy infiltration of the submucosal layer of the conjunctiva with inflammatory cells

• mice exhibit severe inflammation of the ocular surfaces

blepharitis ( J:141704 )

• CD4+ and CD45R/B220+ cells infiltrate the subconjunctival tissue of the eyes lids with few CD8+ and CD45R/B220+ cells infiltrating the dermis of the eye lid

skin inflammation ( J:141704 )

• mice exhibit moderate infiltration of inflammatory cells in abdominal dermis

• perioral dermis and epidermis is infiltrated by mostly CD4+ cells, few CD8+ cells and few CD45R/B220+ cells

• few CD8+ and CD45R/B220+ cells infiltrating the dermis of the eye lid

dermatitis ( J:141704 )

• mice exhibit severe dermatitis on facial and abdominal skin

vision/eye

eye inflammation ( J:141704 )

• mice exhibit heavy infiltration of the submucosal layer of the conjunctiva with inflammatory cells

• mice exhibit severe inflammation of the ocular surfaces

blepharitis ( J:141704 )

• CD4+ and CD45R/B220+ cells infiltrate the subconjunctival tissue of the eyes lids with few CD8+ and CD45R/B220+ cells infiltrating the dermis of the eye lid

abnormal conjunctival epithelium morphology ( J:141704 )

• mice exhibit severe loss of goblet cells from the conjunctival epithelia

homeostasis/metabolism

skin edema ( J:141704 )

• at 6 weeks of age, mice exhibit inter- and intracellular edema of the epidermis

integument

skin edema ( J:141704 )

• at 6 weeks of age, mice exhibit inter- and intracellular edema of the epidermis

skin inflammation ( J:141704 )

• mice exhibit moderate infiltration of inflammatory cells in abdominal dermis

• perioral dermis and epidermis is infiltrated by mostly CD4+ cells, few CD8+ cells and few CD45R/B220+ cells

• few CD8+ and CD45R/B220+ cells infiltrating the dermis of the eye lid

dermatitis ( J:141704 )

• mice exhibit severe dermatitis on facial and abdominal skin

hyperkeratosis ( J:141704 )

epidermal hyperplasia ( J:141704 )

Allelic Composition	Nfkbiz^tm1Aki/Nfkbiz⁺ Stat6^tm1Aki/Stat6^tm1Aki
Genetic Background	C.129P2-Stat6^tm1Aki Nfkbiz^tm1Aki

Find Mice

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

immune system

skin inflammation ( J:141704 )

• mice exhibit mild dermal infiltration of inflammatory cells

• few CD4+ cells infiltrate the perioral dermis and epidermis

integument

skin inflammation ( J:141704 )

• mice exhibit mild dermal infiltration of inflammatory cells

• few CD4+ cells infiltrate the perioral dermis and epidermis

acanthosis ( J:141704 )

• slight

Allelic Composition	Nfkbiz^tm1Aki/Nfkbiz^tm1Aki Rag2^tm1Fwa/Rag2^tm1Fwa
Genetic Background	involves: 129P2/OlaHsd * 129S/SvEv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfkbiz^tm1Aki mutation (0 available); any Nfkbiz mutation (33 available)
Rag2^tm1Fwa mutation (48 available); any Rag2 mutation (117 available)

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

immune system

immune system phenotype ( J:194832 )

N	• inflammation dramatically alleviated

Allelic Composition	Nfkbiz^tm1Aki/Nfkbiz^tm1Aki Tnf^tm1Sek/Tnf^tm1Sek
Genetic Background	involves: 129P2/OlaHsd * C57BL/6NCrlj * CBA/JNCrlj

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfkbiz^tm1Aki mutation (0 available); any Nfkbiz mutation (33 available)
Tnf^tm1Sek mutation (2 available); any Tnf mutation (46 available)

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

vision/eye

eyelid edema ( J:194832 )

conjunctivitis ( J:194832 )

• infiltration of B cells into the conjunctiva

immune system

conjunctivitis ( J:194832 )

• infiltration of B cells into the conjunctiva

dermatitis ( J:194832 )

• heavy infiltration of lymphocytes into dermis

• infiltrating T cells are mostly CD4+

integument

dermatitis ( J:194832 )

• heavy infiltration of lymphocytes into dermis

• infiltrating T cells are mostly CD4+

homeostasis/metabolism

eyelid edema ( J:194832 )

craniofacial

eyelid edema ( J:194832 )

growth/size/body

eyelid edema ( J:194832 )

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