Analysis Tools
mortality/aging
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• in rare instances, adult females die suddenly, typically within days of giving birth
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• about 26% of mutants die in utero beyond E12.5 or before the age of one month
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• mice exhibit a reduction in birth frequency
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• about 26% of mutants die in utero beyond E12.5 or before the age of one month
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cardiovascular system
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• severe post-stenotic dilation
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• aberrant valve formation caused by increased cell proliferation within the outflow tract cushion of developing hearts, first detected at E11.5
• increase in heart cushion cell number in valve cusps at E11.5 and E12.5
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• enlarged heart, with the heart weight-to-tibia length ratio of 4-5 month old mutants greater than in wild-type mice
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• increase in cell numbers within all 4 valves at E14.5
• aortic valve, pulmonary valve, and tricuspid valves show an increase in overall size at E14.5
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• left ventricle ejection fraction and fractional shortening are depressed
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• echocardiography shows depressed left ventricle ejection fraction and fractional shortening, increased left ventricle end systolic and diastolic volumes, increased diastolic and systolic left ventricle chamber dimensions and increased left ventricle anterior and posterior diastolic and systolic wall dimensions
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• Doppler imaging shows turbulent blood flow through either the aortic and/or pulmonary valves in 18 of 19 mice
• 89.5% of mice exhibit increased transvalvic velocity and pressure gradients across the aortic valve
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• Doppler imaging shows turbulent blood flow through either the aortic and/or pulmonary valves in 18 of 19 mice
• 42.1% of mice exhibit increased transvalvic velocity and pressure gradients across the pulmonary valve
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• 36.8% of mice show regurgitation through aortic valves into the left ventricle
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immune system
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• slightly
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• B cell lymphocyte numbers are reduced by 50% to 90% of wild-type
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• following immunization, the number of germinal center B cells is reduced due to increased apoptosis of IgG+ B cells
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• following immunization, a three-fold decrease in germinal centers is observed within red and white pulp compared to wild-type mice
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• the cellularity of mesenteric, cervical and auxillary lymph nodes is reduced to 60% of wild-type while inguineal lymph node cellularity is reduced to 90% of wild-type and is almost absent in some mice
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• in an autoperfused flow chamber, the number of leukocytes rolling over P-selectin is reduced 50% and over E-selectin is reduced 30% compared to wild-type
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• IgG1, IgG2a and IgG3 levels are reduced compared to in wild-type mice and stimulation with a T-dependent antigen (DNP-ficoll or DNP-KLH) failed to induce anti-DNP IgG antibodies
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muscle
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• left ventricle ejection fraction and fractional shortening are depressed
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homeostasis/metabolism
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• 1.4+/-0.4 g/dl compared to 1.5+/-0.1 g/dl in wild-type mice
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• bleed time is increased 3-fold (239+/-257 seconds compared to 75+/-100 seconds for wild-type mice)
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hematopoietic system
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• in an autoperfused flow chamber, the number of leukocytes rolling over P-selectin is reduced 50% and over E-selectin is reduced 30% compared to wild-type
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• slightly
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• B cell lymphocyte numbers are reduced by 50% to 90% of wild-type
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• following immunization, the number of germinal center B cells is reduced due to increased apoptosis of IgG+ B cells
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• following immunization, a three-fold decrease in germinal centers is observed within red and white pulp compared to wild-type mice
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• IgG1, IgG2a and IgG3 levels are reduced compared to in wild-type mice and stimulation with a T-dependent antigen (DNP-ficoll or DNP-KLH) failed to induce anti-DNP IgG antibodies
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cellular
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• in an autoperfused flow chamber, the number of leukocytes rolling over P-selectin is reduced 50% and over E-selectin is reduced 30% compared to wild-type
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• embryos show increased cell proliferation during early cardiac valve development, in cushion cells at E11.5 and E12.5 and within all 4 valves at E14.5
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growth/size/body
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• enlarged heart, with the heart weight-to-tibia length ratio of 4-5 month old mutants greater than in wild-type mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| heart valve disease | DOID:4079 | J:242253 | ||
