Mouse Genome Informatics
involves: 129S1/Sv * C57BL/6J
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• nuclear microaggregates of mutant protein in striatal neurons are rare at 4 months of age but become widely distributed at 6 months of age and nuclear inclusions do not appear until 18 months of age; microaggregates are predominately found in the striosomal compartment
• total volume of the striatum is significantly reduced in 18 and 26-month old mutants, however show normal numbers of medium spiny neurons which results in increased density of neurons in the striatum
• 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

• exhibit increased rearing at night at 2 months of age but not at later time points
• the initial increase in rearing is followed by decreased locomotion at 4 and 6 months of age

Mouse Models of Human Disease
Huntington Disease; HD 143100 J:76018 , J:79137