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Phenotypes Associated with This Genotype
Genotype
MGI:3698001
Allelic
Composition
Htttm7Mem/Htttm7Mem
Genetic
Background
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm7Mem mutation (0 available); any Htt mutation (73 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• survivors die within 2 days after birth
• almost one half are stillborn

nervous system
• enlarged furrowed midbrain that hides the cerebellum
• the aqueduct is enlarged and displaced
• elongated and misshapen forebrain
• architectural abnormalities
• architectural anomalies in the septal nucleus
• lateral ventricles are displaced
• ectopic tissue masses are found in the lateral ventricles
• architectural abnormalities
• however, newborn brains do not exhibit evidence of the striatal or cortical pathology that is seen in Huntington's disease
• architectural abnormalities in the parasagittal cerebral cortex
• newborns exhibit ectopic tissue masses in the subventricular zone
• agenesis of white-matter tracts
• anterior commissure is not well formed

craniofacial
• oddly shaped, elongated cranium
• uni- or bilateral
• uni- or bilateral misshapen and narrowed external ears

hearing/vestibular/ear
• uni- or bilateral
• uni- or bilateral misshapen and narrowed external ears

skeleton
• oddly shaped, elongated cranium

integument
• thickened dehydrated skin

growth/size/body
• uni- or bilateral
• uni- or bilateral misshapen and narrowed external ears

Mouse Models of Human Disease
OMIM ID Ref(s)
NOT Huntington Disease; HD 143100 J:44391


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
06/22/2016
MGI 6.04
The Jackson Laboratory