About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3698039
Allelic
Composition
Htttm4Mem/Htttm4Mem
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm4Mem mutation (2 available); any Htt mutation (25 available)
phenotype observed in females
phenotype observed in males
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 (J:111237)
• 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 (J:111237)
• 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 (J:60937)
• 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 (J:60937)
• QUIN and 3-HK levels are increased in the cortex beginning at 15 months of age, as seen in patients with Huntington disease (J:111237)
• QUIN and 3-HK levels are increased in the cortex beginning at 15 months of age, as seen in patients with Huntington disease (J:111237)
• observed at 12-15 months (J:60937)
• observed at 12-15 months (J:60937)
• 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 (J:99425)
• 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 (J:99425)

behavior/neurological
• observe clasping behavior is some mutants by one year of age (J:99425)
• observe clasping behavior is some mutants by one year of age (J:99425)

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/02/2016
MGI 6.02
The Jackson Laboratory