About   Help   FAQ
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 (178 available)
Htttm7Mem mutation (0 available); any Htt mutation (178 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
• 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
• 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
• 4 of 11 fetuses exhibit exencephaly, with the forebrain and midbrain protruding from the open skull
• 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/body
• 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
DO ID OMIM ID(s) Ref(s)
NOT Huntington's disease DOID:12858 OMIM:143100
J:44391


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory