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Phenotypes Associated with This Genotype
Genotype
MGI:3698408
Allelic
Composition
Htttm6Mem/Htttm8Mem
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm6Mem mutation (0 available); any Htt mutation (77 available)
Htttm8Mem mutation (0 available); any Htt mutation (77 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some severely affected mutants die within 1 month of weaning

growth/size/body
• small throughout postnatal development and adulthood
• mutants weigh significantly less at 1 week after birth and throughout adult life

behavior/neurological
• develop a progressive movement disorder, with variable movement abnormalities evident from 2 months of age
• first indications of movement abnormalities occur at around 2 months of age when mutants exhibit stiff tail and hindlimb clasping during tail suspension
• resting tremors develop over time
• at the most advanced stages, most mutants become hypokinetic
• over time, exhibit difficulties walking after handling
• exhibit abnormal patterns of walking, including dragging hind limbs and a hopping gait that lacks normal alternating left-right steps
• progressively develop paralysis of the limbs and tail
• seizure-like episodes develop over time

nervous system
N
• mutants do not exhibit the striatal pathology that is seen in Huntington Disease
• seizure-like episodes develop over time
• mutants show a range of ventricle sizes, however, ventricle size is not correlated with the progressive movement disease as mutants with normal sized ventricles develop the disease and some asymptomatic mutants have enlarged ventricles
• between 2 and 19 months of age, about 50% of mutants have enlarged lateral and third ventricles, extending from the anterior striatum to the level of the hippocampus
• between 2 and 19 months of age, about 50% of mutants have enlarged lateral and third ventricles, extending from the anterior striatum to the level of the hippocampus

homeostasis/metabolism
• exhibit increased sensitivity to anesthesia-induced death, tolerating only 50-80% of the dose delivered to controls

Mouse Models of Human Disease
OMIM ID Ref(s)
NOT Huntington Disease; HD 143100 J:72915


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
09/27/2016
MGI 6.05
The Jackson Laboratory