Mouse Genome Informatics
hm
    Htttm7Mem/Htttm7Mem
involves: 129S/SvEv * 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
       
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
• uni- or bilateral
• uni- or bilateral misshapen and narrowed external ears

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