Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen2tm1Bdes mutation
(2 available);
any
Psen2 mutation
(31 available)
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Phenotypical analysis of Psen2tm1Bdes/Psen2tm1Bdes mice
respiratory system
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• from 3 months of age, show a thickening of alveolar walls, with broad strands of fibrotic tissues
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• develop mild pulmonary fibrosis with age
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• apoptosis is evident in the lung parenchyma, within the vascular endothelium and bronchial epithelium
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• at 3 and 6 months of age, observe hemorrhages within large groups of alveoli and their adjoining airways
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• apoptosis is evident within the vascular endothelium
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cardiovascular system
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• at 3 and 6 months of age, observe hemorrhages within large groups of alveoli and their adjoining airways
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limbs/digits/tail
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• surprisingly, no alterations in digit formation are seen
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nervous system
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• surprisingly, no alterations in brain anatomy are seen
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cellular
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• apoptosis is evident within the vascular endothelium
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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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• 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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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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• low-level microhematuria
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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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• hypergammaglobulinemia; immunoglobulin deposits are seen along the basal lamina and in the subjacent connective tissue
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homeostasis/metabolism
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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• skin contains numerous intraepithelial keratin 'horn' cysts and a highly papillomatotic interface to the underlying corium
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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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Psen1tm1Bdes/Psen1tm1Bdes Psen2tm1Bdes/Psen2tm1Bdes embryos display severe growth retardation at E9.5
mortality/aging
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• time of lethality is not specified although mutants are recovered at E9.5
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growth/size/body
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• embryos are developmentally retarded by about half a day at E9.5
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embryo
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• vasculogenesis of the yolk sac is delayed in most mutants
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• embryos are posteriorly truncated
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• embryos are developmentally retarded by about half a day at E9.5
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• neural tube often has a kinked appearance
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• yolk sacs do not expand properly and often have a blistered appearance
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• although the initial vascular plexus and primitive red blood cells form, organization into a discrete network of vitelline vessels does not occur
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cardiovascular system
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• vasculogenesis of the yolk sac is delayed in most mutants
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• occasionally the pericardial sacs are enlarged
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• embryo is devoid of blood circulation
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nervous system
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• neural tube often has a kinked appearance
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• fusion of headfolds is delayed
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• mutants at E9.5 have a vestigial forebrain
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• mutants at E9.5 have a vestigial hindbrain
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