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Phenotypes Associated with This Genotype
Genotype
MGI:5474460
Allelic
Composition
Tg(Tagln-SLC6A4)#Edd/?
Genetic
Background
Not Specified
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phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• mutants develop marked pulmonary vascular remodeling as indicated by increased density of muscularized pulmonary vessels
• the increased density of muscularized pulmonary vessels becomes more prominent with time
• mutants show an increase in proliferation of smooth muscle cells in distal pulmonary vessel walls
• mutants show an increase in proliferation of smooth muscle cells in distal pulmonary vessel walls
• right ventricle to left ventricle and septum weight ratio is increased indicating right ventricle hypertrophy
• right ventricular systolic pressure is increased
• however, systemic arterial pressure and heart rate are normal
• right ventricular systolic pressure and right ventricle to left ventricle and septum weight ratio is increased indicating presence of sustained pulmonary hypertension
• pulmonary hypertension progression gets worse over time
• 20 week old mutants exposed to an acute hypoxic challenge (8% oxygen) do not exhibit the marked increase in right ventricular systolic pressure that is seen in wild-type mice, indicating depressed hypoxic pulmonary vasoconstriction
• 8 week old mutants exposed to chronic hypoxia (10% oxygen) exhibit a more severe increase of right ventricle systolic pressure and degree of right ventricle hypertrophy and distal pulmonary vessel muscularization than wild-type mice

muscle
• mutants show an increase in proliferation of smooth muscle cells in distal pulmonary vessel walls

respiratory system
• mutants develop marked pulmonary vascular remodeling as indicated by increased density of muscularized pulmonary vessels
• the increased density of muscularized pulmonary vessels becomes more prominent with time
• mutants show an increase in proliferation of smooth muscle cells in distal pulmonary vessel walls

Mouse Models of Human Disease
OMIM ID Ref(s)
Pulmonary Hypertension, Primary, 1; PPH1 178600 J:144126


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
09/20/2016
MGI 6.05
The Jackson Laboratory