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Phenotypes Associated with This Genotype
Genotype
MGI:3702859
Allelic
Composition
Psen1tm1Bdes/Psen1+
Psen2tm1Bdes/Psen2tm1Bdes
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1tm1Bdes mutation (1 available); any Psen1 mutation (22 available)
Psen2tm1Bdes mutation (2 available); any Psen2 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• an increase in the CD4+/CD8+ ratio (J:91235)
• an increase in the CD4+/CD8+ ratio (J:91235)
• severe leukocytosis (J:91235)
• severe leukocytosis (J:91235)
• 3-fold increase in spleen weight/body weight ratio (J:91235)
• 3-fold increase in spleen weight/body weight ratio (J:91235)
• hypergammaglobulinemia; immunoglobulin deposits are seen along the basal lamina and in the subjacent connective tissue (J:91235)
• hypergammaglobulinemia; immunoglobulin deposits are seen along the basal lamina and in the subjacent connective tissue (J:91235)
• enlarged lymph nodes result in the swelling of the ventrolateral neck (J:91235)
• enlarged lymph nodes result in the swelling of the ventrolateral neck (J:91235)
• develop an autoimmune phenotype in late adulthood (after 6 months of age) exhibiting features of systemic lupus erythematosus (J:91235)
• develop an autoimmune phenotype in late adulthood (after 6 months of age) exhibiting features of systemic lupus erythematosus (J:91235)
• increase in levels of anti-ssDNA IgG antibody levels (J:91235)
• increase in levels of anti-ssDNA IgG antibody levels (J:91235)
• mutants exhibit increased concentration of serum gamma-globulins and alpha1-globulins and a decrease of albumin (J:91235)
• 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 (J:91235)
• mutants exhibit increased concentration of serum gamma-globulins and alpha1-globulins and a decrease of albumin (J:91235)
• 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 (J:91235)
• 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 (J:91235)
• 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 (J:91235)
• variable severity of keratitis: dense leukocyte infiltrates are concentrated in the outer half of the corneal stroma, which is thickened and vascularized (J:91235)
• variable severity of keratitis: dense leukocyte infiltrates are concentrated in the outer half of the corneal stroma, which is thickened and vascularized (J:91235)
• 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 (J:91235)
• 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 (J:91235)
• skin of aged mutants has multifocal invasion of corium and subcutis by leukocytes (predominantly lymphocytes), often forming large nodular aggregates (J:91235)
• inflammation involves a mixed population of cells consisting of B- and T-lymphocytes and macrophages (J:91235)
• skin of aged mutants has multifocal invasion of corium and subcutis by leukocytes (predominantly lymphocytes), often forming large nodular aggregates (J:91235)
• inflammation involves a mixed population of cells consisting of B- and T-lymphocytes and macrophages (J:91235)

vision/eye
• variable severity of keratitis: dense leukocyte infiltrates are concentrated in the outer half of the corneal stroma, which is thickened and vascularized (J:91235)
• variable severity of keratitis: dense leukocyte infiltrates are concentrated in the outer half of the corneal stroma, which is thickened and vascularized (J:91235)
• sometimes the epithelium exhibits focal dysplasia characterized by an irregular thickening and a loss of its normal stratification (J:91235)
• sometimes the epithelium exhibits focal dysplasia characterized by an irregular thickening and a loss of its normal stratification (J:91235)

renal/urinary system
• low-level microproteinuria (J:91235)
• low-level microproteinuria (J:91235)
• low-level microhematuria (J:91235)
• low-level microhematuria (J:91235)
• 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 (J:91235)
• 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 (J:91235)

cardiovascular system
• 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 (J:91235)
• 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 (J:91235)

hematopoietic system
• an increase in the CD4+/CD8+ ratio (J:91235)
• an increase in the CD4+/CD8+ ratio (J:91235)
• severe leukocytosis (J:91235)
• severe leukocytosis (J:91235)
• 3-fold increase in spleen weight/body weight ratio (J:91235)
• 3-fold increase in spleen weight/body weight ratio (J:91235)
• hypergammaglobulinemia; immunoglobulin deposits are seen along the basal lamina and in the subjacent connective tissue (J:91235)
• hypergammaglobulinemia; immunoglobulin deposits are seen along the basal lamina and in the subjacent connective tissue (J:91235)

homeostasis/metabolism
• low-level microproteinuria (J:91235)
• low-level microproteinuria (J:91235)
• low-level microhematuria (J:91235)
• low-level microhematuria (J:91235)

integument
• skin of aged mutants has multifocal invasion of corium and subcutis by leukocytes (predominantly lymphocytes), often forming large nodular aggregates (J:91235)
• inflammation involves a mixed population of cells consisting of B- and T-lymphocytes and macrophages (J:91235)
• skin of aged mutants has multifocal invasion of corium and subcutis by leukocytes (predominantly lymphocytes), often forming large nodular aggregates (J:91235)
• inflammation involves a mixed population of cells consisting of B- and T-lymphocytes and macrophages (J:91235)
• skin contains numerous intraepithelial keratin 'horn' cysts and a highly papillomatotic interface to the underlying corium (J:91235)
• skin contains numerous intraepithelial keratin 'horn' cysts and a highly papillomatotic interface to the underlying corium (J:91235)
• 75% of mutants aged between 6 and 18 months of age develop wart-like protrusions and exulcerations of the skin (J:91235)
• skin lesions resemble human seborrheic keratosis (J:91235)
• 75% of mutants aged between 6 and 18 months of age develop wart-like protrusions and exulcerations of the skin (J:91235)
• skin lesions resemble human seborrheic keratosis (J:91235)
• 75% of mutants aged between 6 and 18 months of age develop exulcerations of the skin (J:91235)
• 75% of mutants aged between 6 and 18 months of age develop exulcerations of the skin (J:91235)
• skin develops numerous intraepithelial keratin 'horn' cysts in late adulthood (after 6 months of age) (J:91235)
• skin develops numerous intraepithelial keratin 'horn' cysts in late adulthood (after 6 months of age) (J:91235)


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory