Analysis Tools
immune system
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• 3-fold increase in spleen weight/body weight ratio
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• an increase in the CD4+/CD8+ ratio
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• severe leukocytosis
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• hypergammaglobulinemia; immunoglobulin deposits are seen along the basal lamina and in the subjacent connective tissue
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• enlarged lymph nodes result in the swelling of the ventrolateral neck
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• develop an autoimmune phenotype in late adulthood (after 6 months of age) exhibiting features of systemic lupus erythematosus
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• increase in levels of anti-ssDNA IgG antibody levels
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• mutants exhibit increased concentration of serum gamma-globulins and alpha1-globulins and a decrease of albumin
• leukocyte invasions and Ig deposits are seen in the skin and kidney, and to a lesser extent in liver, skeletal muscle and salivary glands, most often associated with blood vessels and stroma and less so with the parenchyma
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• arteries in most tissues, but especially in skin and kidney, are surrounded and invaded by leukocytes, similar to that seen in human leukocytoclastic autoimmune vasculitis
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• variable severity of keratitis: dense leukocyte infiltrates are concentrated in the outer half of the corneal stroma, which is thickened and vascularized
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• leukocyte aggregates are mostly in the vicinity of larger blood vessles and also invade the glomerula of the parenchyma; Ig deposits are also seen in the glomerula
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• skin of aged mutants has multifocal invasion of corium and subcutis by leukocytes (predominantly lymphocytes), often forming large nodular aggregates
• inflammation involves a mixed population of cells consisting of B- and T-lymphocytes and macrophages
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dermatitis
(
J:91235
)
vision/eye
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• variable severity of keratitis: dense leukocyte infiltrates are concentrated in the outer half of the corneal stroma, which is thickened and vascularized
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• sometimes the epithelium exhibits focal dysplasia characterized by an irregular thickening and a loss of its normal stratification
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renal/urinary system
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• low-level microproteinuria
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• leukocyte aggregates are mostly in the vicinity of larger blood vessles and also invade the glomerula of the parenchyma; Ig deposits are also seen in the glomerula
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cardiovascular system
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• arteries in most tissues, but especially in skin and kidney, are surrounded and invaded by leukocytes, similar to that seen in human leukocytoclastic autoimmune vasculitis
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hematopoietic system
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• 3-fold increase in spleen weight/body weight ratio
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• an increase in the CD4+/CD8+ ratio
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• severe leukocytosis
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• hypergammaglobulinemia; immunoglobulin deposits are seen along the basal lamina and in the subjacent connective tissue
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homeostasis/metabolism
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• low-level microproteinuria
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integument
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• skin of aged mutants has multifocal invasion of corium and subcutis by leukocytes (predominantly lymphocytes), often forming large nodular aggregates
• inflammation involves a mixed population of cells consisting of B- and T-lymphocytes and macrophages
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dermatitis
(
J:91235
)
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• skin contains numerous intraepithelial keratin 'horn' cysts and a highly papillomatotic interface to the underlying corium
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skin lesions
(
J:91235
)
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• 75% of mutants aged between 6 and 18 months of age develop wart-like protrusions and exulcerations of the skin
• skin lesions resemble human seborrheic keratosis
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• 75% of mutants aged between 6 and 18 months of age develop exulcerations of the skin
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• skin develops numerous intraepithelial keratin 'horn' cysts in late adulthood (after 6 months of age)
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growth/size/body
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• skin develops numerous intraepithelial keratin 'horn' cysts in late adulthood (after 6 months of age)
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• 3-fold increase in spleen weight/body weight ratio
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| seborrheic keratosis | DOID:6498 |
OMIM:182000 |
J:91235 | |
| systemic lupus erythematosus | DOID:9074 |
OMIM:152700 OMIM:300809 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420 |
J:91235 | |
