Phenotypes Associated with This Genotype

Genotype
MGI:5439184

• Allelic Composition: Traf3ip2^tm1.1Lix/Traf3ip2^tm1.1Lix
• Genetic Background: C.129-Traf3ip2^tm1.1Lix

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

mortality/aging

premature death ( J:138560 )

• mutants begin to die around 4 months of age and by 12 months of age, about 83% mutants are dead

immune system

increased transitional stage B cell number ( J:138560 )

increased follicular B cell number ( J:138560 )

increased marginal zone B cell number ( J:138560 )

enlarged submandibular lymph nodes ( J:138560 )

• lymph nodes proximal to the submaxillary glands are greatly enlarged

increased autoantibody level ( J:138560 )

• mutants, but not wild-type mice, develop anti-SSA/Ro and anti-SSB/La autoantibodies in response to recombinant SSA/Ro and SSB/La antigens

increased inflammatory response ( J:138560 )

• lymphocyte infiltration in lacrimal, parotid and submaxillary glands; most infiltrates are in the perivascular or periductal areas of the glands

parotid gland inflammation ( J:138560 )

• lymphocyte infiltration in parotid glands

submandibular gland inflammation ( J:138560 )

• lymphocyte infiltration in submandibular glands

stomatitis ( J:138560 )

• mouth inflammation

lacrimal gland inflammation ( J:138560 )

• lymphocyte infiltration in lacrimal glands

• lacrimal glands are infiltrated by B220+ B cells and T cells

blepharitis ( J:138560 )

• some mutants develop skin lesions around the eyes due to excessive scratching of affected eyes

• both males and females exhibit difficulties in maintaining fully opened eyelids beginning around 3 weeks of age due to inflammation

kidney inflammation ( J:138560 )

• mutants at 8-12 months of age exhibit lymphocyte infiltration in the kidney, including the glomeruli

glomerulonephritis ( J:138560 )

• presence of anti-DNA autoantibodies and IgG complex in glomeruli, indicating development of glomerulonephritis

digestive/alimentary system

xerostomia ( J:138560 )

• mutants exhibit reduced flow rate of saliva production

increased submandibular gland size ( J:138560 )

• enlarged submaxillary glands

parotid gland inflammation ( J:138560 )

• lymphocyte infiltration in parotid glands

submandibular gland inflammation ( J:138560 )

• lymphocyte infiltration in submandibular glands

stomatitis ( J:138560 )

• mouth inflammation

renal/urinary system

kidney inflammation ( J:138560 )

• mutants at 8-12 months of age exhibit lymphocyte infiltration in the kidney, including the glomeruli

glomerulonephritis ( J:138560 )

• presence of anti-DNA autoantibodies and IgG complex in glomeruli, indicating development of glomerulonephritis

renal glomerular immunoglobulin deposits ( J:138560 )

craniofacial

xerostomia ( J:138560 )

• mutants exhibit reduced flow rate of saliva production

endocrine/exocrine glands

xerostomia ( J:138560 )

• mutants exhibit reduced flow rate of saliva production

parotid gland inflammation ( J:138560 )

• lymphocyte infiltration in parotid glands

submandibular gland inflammation ( J:138560 )

• lymphocyte infiltration in submandibular glands

abnormal exocrine gland morphology ( J:138560 )

• exocrine glands are infiltrated by large number of B and T cells

increased submandibular gland size ( J:138560 )

• enlarged submaxillary glands

lacrimal gland inflammation ( J:138560 )

• lymphocyte infiltration in lacrimal glands

• lacrimal glands are infiltrated by B220+ B cells and T cells

hematopoietic system

increased transitional stage B cell number ( J:138560 )

increased follicular B cell number ( J:138560 )

increased marginal zone B cell number ( J:138560 )

vision/eye

lacrimal gland inflammation ( J:138560 )

• lymphocyte infiltration in lacrimal glands

• lacrimal glands are infiltrated by B220+ B cells and T cells

blepharitis ( J:138560 )

• some mutants develop skin lesions around the eyes due to excessive scratching of affected eyes

• both males and females exhibit difficulties in maintaining fully opened eyelids beginning around 3 weeks of age due to inflammation

dry eyes ( J:138560 )

homeostasis/metabolism

xerostomia ( J:138560 )

• mutants exhibit reduced flow rate of saliva production

growth/size/body

xerostomia ( J:138560 )

• mutants exhibit reduced flow rate of saliva production

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sjogren's syndrome		DOID:12894	OMIM:270150	J:138560