Mouse Genome Informatics
tg
    Tg(HDexon1)62Gpb/0
B6CBA-Tg(HDexon1)62Gpb/1J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
cardiovascular system
• mitochondria in cardiomyocytes examined at 12 weeks of age exhibit a circular appearance with a disruption of uniform densities
• significantly reduced at 12 weeks of age
• mice exhibit left ventricular dilation in comparison to controls
• detected as early as 8 weeks of age and reduced to 50% by 12 weeks of age
• mice exhibit progressive reduction in stroke volume, although there are no differences in heart rate
• transmitral flow velocity is altered as compared to controls
• E/A ratio is significantly decreased at all time points
• mice exhibit a decrease in passive ventricular filling and a significant increase in atrial-mediated left ventricle filling
• diminished left ventricular wall motion during systole
• left ventricle fractional shortening significantly impaired at 10 and 12 weeks of age
• diminished left ventricular wall motion during systole
• left ventricle fractional shortening significantly impaired at 10 and 12 weeks of age

growth/size
• mice exhibited less weight gain over time than controls

muscle
• mitochondria in cardiomyocytes examined at 12 weeks of age exhibit a circular appearance with a disruption of uniform densities
• diminished left ventricular wall motion during systole
• left ventricle fractional shortening significantly impaired at 10 and 12 weeks of age

behavior/neurological
• exhibit clasping of both fore and hind paws
• impaired mobility in home cages

nervous system
• 3-hydroxykynurenine (3-HK) levels are significantly elevated in the striatum at 4 weeks of age, a phenotype observed in Huntington disease patients
• 3-HK levels are significantly elevated in the cortex at 4 weeks of age, a phenotype observed in Huntington disease patients
• 3-HK levels are significantly elevated in the cerebellum at 4 weeks of age, a phenotype observed in Huntington disease patients
• striatal and cortical mitochondria are equally resistant to calcium at 8 and 12 weeks of age, while in controls, striatal mitochondria is more sensitive to calcium
• striatal and cortical neurons display more rapid and increased swelling to N-methyl-D-aspartate (NMDA) than controls, but not to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) or kainate (KA), indicating increased sensitivity to NMDA
• intracellular recordings show that resting membrane potentials of striatal neurons are significantly more depolarized than in controls

Mouse Models of Human Disease
OMIM IDRef(s)
Huntington Disease; HD 143100 J:99425 , J:111237