Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jak1M1Mhda mutation
(1 available);
any
Jak1 mutation
(50 available)
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craniofacial
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• auricle degeneration when >4 months old
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growth/size/body
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• auricle degeneration when >4 months old
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hearing/vestibular/ear
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• auricle degeneration when >4 months old
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homeostasis/metabolism
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jak1M1Mhda mutation
(1 available);
any
Jak1 mutation
(50 available)
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growth/size/body
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• starting at 4 months of age, pinnae shrink with slow progression
• with age, the ear margins show redness and thickening
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• at 10 and 15 weeks of age
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• nodular regenerative hyperplasia of the liver
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• females exhibit splenomegaly
• however, architecture of the white pulp and cell composition appear normal and show normal T cell, B cell and macrophage frequencies
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cardiovascular system
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• livers show prominent vessels and increased vascularization at 4-12 months of age
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craniofacial
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• starting at 4 months of age, pinnae shrink with slow progression
• with age, the ear margins show redness and thickening
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hearing/vestibular/ear
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• starting at 4 months of age, pinnae shrink with slow progression
• with age, the ear margins show redness and thickening
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• ear cartilage is destroyed by inflammatory cells in advanced lesions
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hematopoietic system
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• females exhibit splenomegaly
• however, architecture of the white pulp and cell composition appear normal and show normal T cell, B cell and macrophage frequencies
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• microcytic, erythropenic anemia with increased anisocytosis and reticulocyte proportion
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• 50% and 75% loss of megakaryoctyes in the spleen red pulp of females and males, respectively
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• increase in red blood cell counts at 4.5 and 6 months of age
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• anisocytosis is seen at 4.5 and 6 months of age
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• older mutants exhibit thrombocytopenia which is associated with increased platelet distribution width
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• increase in the number of Russell bodies (large cytoplasmic eosiniophilic globules containing immunoglobulin inclusions) in females
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• slight increase in the number of plasma cells
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• females show significant elevations in IgA, IgG1, IgG2a, and IgM and a tendency towards increased IgG3 and IgE levels
• males show significant elevations in IgG1, IgG2a, and IgM and a tendency towards increased levels of IgA, IgG3, and IgE
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• significant elevation in females and a tendency towards increased levels in males
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• significant elevations in both males and females
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• significant elevations in both males and females
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• significant elevations in both males and females
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immune system
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• females exhibit splenomegaly
• however, architecture of the white pulp and cell composition appear normal and show normal T cell, B cell and macrophage frequencies
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• ear cartilage is destroyed by inflammatory cells in advanced lesions
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• increase in the number of Russell bodies (large cytoplasmic eosiniophilic globules containing immunoglobulin inclusions) in females
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• slight increase in the number of plasma cells
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• females show significant elevations in IgA, IgG1, IgG2a, and IgM and a tendency towards increased IgG3 and IgE levels
• males show significant elevations in IgG1, IgG2a, and IgM and a tendency towards increased levels of IgA, IgG3, and IgE
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• significant elevation in females and a tendency towards increased levels in males
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• significant elevations in both males and females
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• significant elevations in both males and females
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• significant elevations in both males and females
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• presence of anti-DNA autoantibodies
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• 60% of mutants at 8 months of age show mononuclear cell infiltration in the dermis
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integument
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• 60% of mutants at 8 months of age show mononuclear cell infiltration in the dermis
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• females, but not males, develop alopecia on the neck and head, with external signs of inflammation in some mutants
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• dermis shows thickening of connective tissue, increase in granulation tissue, and mononuclear cell infiltration
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• skin lesions of the upper dorsal region and of the ears show inflammatory infiltrate (predominately neutrophils) in the epidermis with hyperkeratosis and acantosis
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limbs/digits/tail
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• redness and thickening of tails is seen after 8 months of age in some mutants
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liver/biliary system
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• livers of 74% of mutants show irregular margins, prominent vessels and increased vascularization at 4 months of age and by 12 months, 90% of mutants show these changes
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• livers show prominent vessels and increased vascularization at 4-12 months of age
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• nodular regenerative hyperplasia of the liver
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• hyperplastic hepatocytes surrounded by atrophic hepatocytes in the adjacent parenchyma
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• lesions resemble nodular regenerative hyperplasia
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homeostasis/metabolism
renal/urinary system
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• decrease in urea at 3 months of age, although this improves with age
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• thickening of mesangium in some glomeruli
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skeleton
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• in cortical bone, periosteal volume, cortical bone volume, and cross-sectional thickness are decreased and endosteal volume is increased
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• decrease in trabecular density, trabecular content, bone volume:tissue ratio, trabecular bone surface, and trabecular number for trabecular bone
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• mutants at 12 months of age show loss of almost all metaphyseal and diaphyseal trabeculae
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• mutants show increased values of collagen type I fragments generated during osteoclastic bone resorption
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Analysis Tools
