Mouse Genome Informatics
hm
    Htttm4Mem/Htttm4Mem
involves: 129S1/Sv * 129X1/SvJ * CD-1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
nervous system
• the levels of both the endogenous excitotoxin quinolinic acid (QUIN) and its bioprecursor, 3-hydroxykynurenine (3-HK) are increased in the striatum beginning at 15 months of age, similarly to that seen in Huntington disease patients
• exhibit relocation of the mutant protein to the nucleus in medium sized spiny neurons and much later, the formation of morphologic nuclear inclusions (at 12-15 months) and insoluble aggregate that are hallmarks of Huntington's Disease in humans
• QUIN and 3-HK levels are increased in the cortex beginning at 15 months of age, as seen in patients with Huntington disease
• observed at 12-15 months
• between 5 and 12 months of age, striatal mitochondria develops resistance to calcium, becoming equally sensitive to calcium as cortical mitochondria, whereas in wild-type, striatal mitochondria is more sensitive to calcium than cortical mitochondria

behavior/neurological
• observe clasping behavior is some mutants by one year of age

Mouse Models of Human Disease
OMIM IDRef(s)
Huntington Disease; HD 143100 J:60937 , J:99425 , J:111237