Mouse Genome Informatics
ht
    Htttm1Mem/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
• no mutants observed at weaning but some are present as stillborn pups
• the expected numbers are seen at E18.5, however 7 of 18 are either dead or in the process of being absorbed, indicating that some die before E18.5

nervous system
• cerebellum is misshapen and appears underdeveloped
• 4 of 11 fetuses exhibit exencephaly, with the forebrain and midbrain protruding from the open skull
• the tightly organized layer of neuroepithelium at the ventricular surface is absent or is replaced or obscured by Map2 immunoreactive postmitotic neuronal cells
• midbrain is distorted by the abnormally large aqueduct
• aqueduct is abnormally dilated
• forebrain is misshapen
• thalamus is malformed and displaced
• along the midline, the entire septal area is misshapen and reduced
• lateral ventricles are abnormally dilated
• exhibit abnormal organization and thickening of the striatal subventricular zone
• however, the striatum does not show evidence of Huntington's disease-like pathology
• hippocampus is malformed and displaced
• agenesis of the fimbria
• olfactory bulbs are malformed and displaced
• display abnormal organization and thickening of the striatal subventricular zone that contains ectopic cell masses that protrude into the lateral ventricles
• fiber tracts exhibit extensive agenesis

cardiovascular system
• head region is conspicuously vascularized

craniofacial
• domed cranium
• uni- or bilateral misplaced external ears
• uni- or bilateral misshapen external ears

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

skeleton
• domed cranium

integument
• thickened waxy skin

growth/size
• pups alive at E18.5, display a more severe head phenotype than seen in Hdhtm7Mem homozygotes
• uni- or bilateral misplaced external ears
• uni- or bilateral misshapen external ears

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