Phenotypes Associated with This Genotype

Genotype
MGI:6274721

• Allelic Composition: Tg(Emu-TXLNA)1Amjr/0
• Genetic Background: B6.Cg-Tg(Emu-TXLNA)1Amjr

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

respiratory system

interstitial pneumonia ( J:145185 )

• by 12 months of age, mice develop lymphocytic interstitial pneumonitis

• however, no evidence of arthritis or systemic vasculitis are seen

digestive/alimentary system

decreased salivation ( J:145185 )

• by 6 months of age, mice show a decline in salivary gland secretion which becomes progressively worse over time

salivary gland inflammation ( J:117018 , J:145185 )

• 39 of 40 mice develop lymphocytic infiltration of salivary glands that is age dependent (J:117018)

• lymphocytic infiltration of the salivary glands is comprised of predominately B220+ B cells with scattered CD4+ T and only rare CD8+ T cells and CD138+ plasma cells are seen in clusters, mostly in a perivascular distribution (J:145185)

parotid gland inflammation ( J:145185 )

• mice show early inflammation in parotid glands at 15 months of age and malignant changes at 18 months

• however, the sublingual glands are normal

submandibular gland inflammation ( J:145185 )

• mice develop lymphocytic infiltration into submandibular glands at 9 months and malignant change is seen by 18 months of age

vision/eye

lacrimal gland inflammation ( J:145185 )

• mice show lymphocytic infiltration in the lacrimal glands by 12 months of age

endocrine/exocrine glands

decreased salivation ( J:145185 )

• by 6 months of age, mice show a decline in salivary gland secretion which becomes progressively worse over time

salivary gland inflammation ( J:117018 , J:145185 )

• 39 of 40 mice develop lymphocytic infiltration of salivary glands that is age dependent (J:117018)

• lymphocytic infiltration of the salivary glands is comprised of predominately B220+ B cells with scattered CD4+ T and only rare CD8+ T cells and CD138+ plasma cells are seen in clusters, mostly in a perivascular distribution (J:145185)

parotid gland inflammation ( J:145185 )

• mice show early inflammation in parotid glands at 15 months of age and malignant changes at 18 months

• however, the sublingual glands are normal

submandibular gland inflammation ( J:145185 )

• mice develop lymphocytic infiltration into submandibular glands at 9 months and malignant change is seen by 18 months of age

lacrimal gland inflammation ( J:145185 )

• mice show lymphocytic infiltration in the lacrimal glands by 12 months of age

hematopoietic system

enlarged spleen ( J:117018 )

• aged mice develop mild splenomegaly

increased B cell number ( J:117018 )

increased germinal center B cell number ( J:117018 )

• mice exhibit an increase in CD19+, CD38+ sIgD-low germinal center B cells in the spleen

increased B-1 B cell number ( J:117018 )

• mice show an increase in the percentage of CD5+CD19+IgM+sIgD-low B1 cells in the peritoneum

increased B-2 B cell number ( J:117018 )

• mice exhibit an increase in CD19+ splenic B2 cells

increased marginal zone B cell number ( J:117018 )

• mice exhibit an increase in CD19+, CD21+, IgM+ marginal zone B cells

increased plasma cell number ( J:117018 )

• mice show an increase in CD19-CD138+ plasma cells

abnormal B cell physiology ( J:117018 )

• mice exhibit increased IgG anti-NP vaccine responses to the T-dependent antigen NP-OVA

• mice exhibit increased IgM anti-NP vaccine responses to the T-independent antigen NP-Ficoll

increased immunoglobulin level ( J:117018 )

• mice develop hypergammaglobulinemia by 6 months of age involving both IgG and IgM

increased IgA level ( J:117018 )

• mice show an increase in IgA at 9 months of age

increased IgG2a level ( J:117018 )

• mice show a more prominent elevation in IgG2a, but not other IgG subclasses

increased IgM level ( J:117018 )

• all mice exhibit increased levels of IgM anti-cardiolipin autoantibody in sera

homeostasis/metabolism

decreased salivation ( J:145185 )

• by 6 months of age, mice show a decline in salivary gland secretion which becomes progressively worse over time

increased circulating interferon-alpha level ( J:117018 )

• mice show an increase in IFN-alpha in the sera of 10-12 months of age, however levels of IFN-beta and IFN-gamma are similar to controls

increased urine protein level ( J:117018 )

• mice have mild proteinuria by 8 months of age but never develop renal dysfunction

immune system

salivary gland inflammation ( J:117018 , J:145185 )

• 39 of 40 mice develop lymphocytic infiltration of salivary glands that is age dependent (J:117018)

• lymphocytic infiltration of the salivary glands is comprised of predominately B220+ B cells with scattered CD4+ T and only rare CD8+ T cells and CD138+ plasma cells are seen in clusters, mostly in a perivascular distribution (J:145185)

parotid gland inflammation ( J:145185 )

• mice show early inflammation in parotid glands at 15 months of age and malignant changes at 18 months

• however, the sublingual glands are normal

submandibular gland inflammation ( J:145185 )

• mice develop lymphocytic infiltration into submandibular glands at 9 months and malignant change is seen by 18 months of age

lacrimal gland inflammation ( J:145185 )

• mice show lymphocytic infiltration in the lacrimal glands by 12 months of age

enlarged spleen ( J:117018 )

• aged mice develop mild splenomegaly

increased B cell number ( J:117018 )

increased germinal center B cell number ( J:117018 )

• mice exhibit an increase in CD19+, CD38+ sIgD-low germinal center B cells in the spleen

increased B-1 B cell number ( J:117018 )

• mice show an increase in the percentage of CD5+CD19+IgM+sIgD-low B1 cells in the peritoneum

increased B-2 B cell number ( J:117018 )

• mice exhibit an increase in CD19+ splenic B2 cells

increased marginal zone B cell number ( J:117018 )

• mice exhibit an increase in CD19+, CD21+, IgM+ marginal zone B cells

increased plasma cell number ( J:117018 )

• mice show an increase in CD19-CD138+ plasma cells

abnormal B cell physiology ( J:117018 )

• mice exhibit increased IgG anti-NP vaccine responses to the T-dependent antigen NP-OVA

• mice exhibit increased IgM anti-NP vaccine responses to the T-independent antigen NP-Ficoll

increased immunoglobulin level ( J:117018 )

• mice develop hypergammaglobulinemia by 6 months of age involving both IgG and IgM

increased IgA level ( J:117018 )

• mice show an increase in IgA at 9 months of age

increased IgG2a level ( J:117018 )

• mice show a more prominent elevation in IgG2a, but not other IgG subclasses

increased IgM level ( J:117018 )

• all mice exhibit increased levels of IgM anti-cardiolipin autoantibody in sera

increased circulating interferon-alpha level ( J:117018 )

• mice show an increase in IFN-alpha in the sera of 10-12 months of age, however levels of IFN-beta and IFN-gamma are similar to controls

lymphoid hyperplasia ( J:117018 )

• aged mice develop mild lymphoid hyperplasia

enhanced humoral immune response ( J:145185 )

• 9 month old mice exhibit IgM deposits in peri-acinar cells of submandibular glands and by 15 months of age, IgM deposits are further seen in the cytosol of acinar cells

increased susceptibility to autoimmune disorder ( J:117018 , J:145185 )

• 9-17 month old mice develop autoantibodies and sialadenitis indicative of Sjogren's syndrome (J:117018)

increased autoantibody level ( J:117018 )

• all mice exhibit increased levels of IgM anti-cardiolipin autoantibody in sera

• some mice show increased levels of one or more autoantibodies, including IgG ANA, anti-dsDNA, anti-chromatin, anti-Ro, anti-La, anti-Sm, and anti-nRNP, however many mice do not exhibit increased levels of these

• females tend to develop autoimmunity earlier and more severely than males

kidney inflammation ( J:117018 )

• deposition of IgM in the glomeruli and weak deposition of IgG and complement, indicating immune complex-mediated nephritis

interstitial pneumonia ( J:145185 )

• by 12 months of age, mice develop lymphocytic interstitial pneumonitis

• however, no evidence of arthritis or systemic vasculitis are seen

neoplasm

increased B cell derived lymphoma incidence ( J:117018 )

• 96% of 12-20 month old mice develop lymphoma, with a few mice showing lymphoma restricted to the spleen but most showing it in the liver and gastrointestinal tract or lung

• lymphoma has features of large B cell lymphoma, express CD5 and CD19 but not CD21 and variably CD23

• lymphoma contains Ig gene rearrangements suggesting a B cell tumor of monoclonal origin

renal/urinary system

increased urine protein level ( J:117018 )

• mice have mild proteinuria by 8 months of age but never develop renal dysfunction

kidney inflammation ( J:117018 )

• deposition of IgM in the glomeruli and weak deposition of IgG and complement, indicating immune complex-mediated nephritis

abnormal renal glomerulus morphology ( J:117018 )

• deposition of IgM in the glomeruli and weak deposition of IgG and complement

abnormal mesangial cell morphology ( J:117018 )

• mild increase in mesangial cells in the kidneys at 10 months of age

cardiovascular system

abnormal blood vessel morphology ( J:117018 )

• deposition of IgM in blood vessels

cellular

abnormal mesangial cell morphology ( J:117018 )

• mild increase in mesangial cells in the kidneys at 10 months of age

growth/size/body

enlarged spleen ( J:117018 )

• aged mice develop mild splenomegaly

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sjogren's syndrome		DOID:12894	OMIM:270150	J:145185