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Phenotypes Associated with This Genotype
Genotype
MGI:3698007
Allelic
Composition
Htttm1Mem/Htttm7Mem
Genetic
Background
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm1Mem mutation (1 available); any Htt mutation (25 available)
Htttm7Mem mutation (0 available); any Htt mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no mutants observed at weaning but some are present as stillborn pups (J:44391)
• no mutants observed at weaning but some are present as stillborn pups (J:44391)
• 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 (J:44391)
• 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 (J:44391)

nervous system
• cerebellum is misshapen and appears underdeveloped (J:44391)
• cerebellum is misshapen and appears underdeveloped (J:44391)
• 4 of 11 fetuses exhibit exencephaly, with the forebrain and midbrain protruding from the open skull (J:44391)
• 4 of 11 fetuses exhibit exencephaly, with the forebrain and midbrain protruding from the open skull (J:44391)
• the tightly organized layer of neuroepithelium at the ventricular surface is absent or is replaced or obscured by Map2 immunoreactive postmitotic neuronal cells (J:44391)
• the tightly organized layer of neuroepithelium at the ventricular surface is absent or is replaced or obscured by Map2 immunoreactive postmitotic neuronal cells (J:44391)
• midbrain is distorted by the abnormally large aqueduct (J:44391)
• midbrain is distorted by the abnormally large aqueduct (J:44391)
• aqueduct is abnormally dilated (J:44391)
• aqueduct is abnormally dilated (J:44391)
• forebrain is misshapen (J:44391)
• forebrain is misshapen (J:44391)
• thalamus is malformed and displaced (J:44391)
• thalamus is malformed and displaced (J:44391)
• along the midline, the entire septal area is misshapen and reduced (J:44391)
• along the midline, the entire septal area is misshapen and reduced (J:44391)
• lateral ventricles are abnormally dilated (J:44391)
• lateral ventricles are abnormally dilated (J:44391)
• exhibit abnormal organization and thickening of the striatal subventricular zone (J:44391)
• however, the striatum does not show evidence of Huntington's disease-like pathology (J:44391)
• exhibit abnormal organization and thickening of the striatal subventricular zone (J:44391)
• however, the striatum does not show evidence of Huntington's disease-like pathology (J:44391)
• hippocampus is malformed and displaced (J:44391)
• hippocampus is malformed and displaced (J:44391)
• agenesis of the fimbria (J:44391)
• agenesis of the fimbria (J:44391)
• olfactory bulbs are malformed and displaced (J:44391)
• olfactory bulbs are malformed and displaced (J:44391)
• display abnormal organization and thickening of the striatal subventricular zone that contains ectopic cell masses that protrude into the lateral ventricles (J:44391)
• display abnormal organization and thickening of the striatal subventricular zone that contains ectopic cell masses that protrude into the lateral ventricles (J:44391)
• fiber tracts exhibit extensive agenesis (J:44391)
• fiber tracts exhibit extensive agenesis (J:44391)

cardiovascular system
• head region is conspicuously vascularized (J:44391)
• head region is conspicuously vascularized (J:44391)

craniofacial
• domed cranium (J:44391)
• domed cranium (J:44391)
• uni- or bilateral misplaced external ears (J:44391)
• uni- or bilateral misplaced external ears (J:44391)
• uni- or bilateral misshapen external ears (J:44391)
• uni- or bilateral misshapen external ears (J:44391)

hearing/vestibular/ear
• uni- or bilateral misplaced external ears (J:44391)
• uni- or bilateral misplaced external ears (J:44391)
• uni- or bilateral misshapen external ears (J:44391)
• uni- or bilateral misshapen external ears (J:44391)

skeleton
• domed cranium (J:44391)
• domed cranium (J:44391)

integument
• thickened waxy skin (J:44391)
• thickened waxy skin (J:44391)

growth/size/body
• pups alive at E18.5, display a more severe head phenotype than seen in Hdhtm7Mem homozygotes (J:44391)
• pups alive at E18.5, display a more severe head phenotype than seen in Hdhtm7Mem homozygotes (J:44391)
• uni- or bilateral misplaced external ears (J:44391)
• uni- or bilateral misplaced external ears (J:44391)
• uni- or bilateral misshapen external ears (J:44391)
• uni- or bilateral misshapen external ears (J:44391)

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
02/02/2016
MGI 6.02
The Jackson Laboratory