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Phenotypes Associated with This Genotype
Genotype
MGI:2176494
Allelic
Composition
Htttm1Mem/Htttm1Mem
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm1Mem mutation (1 available); any Htt mutation (77 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• by E8.5, all homozygous embryos are being resorbed, while only resorption sites are found at E9.5

embryo
• embryonic ectoderm is symmetrical and featureless, without evidence of head folds
• ectoderm is thicker than normal, and is disorganized rather than columnar especially distally
• ~10% of cells are pyknotic compared to <1% in normal embryos
• at E7.5, homozygous embryos are ~2/3 of normal size and misshapen; at E7.0, some homozygous embryos are observed to be smaller and thinner than other embryos in the litter
• embryonic region appears shrunken at E7.5
• at E7.5, primitive streak at one end of embryos forms, but no node structure is evident
• at E7.5, there is prominent constriction between the extraembryonic and embryonic regions of homozygotes
• at E7.5, extraembryonic region is reduced in size
• columnar cells of endoderm are not organized into tight sheath as in normal embryos, but form a folded layer extending around shrunken embryonic region
• mesoderm cells line yolk sac, amnion, and chorion, but do not extend to distal pole
• cells are abnormally rounded and densely, not loosely, packed

growth/size/body
• at E7.5, homozygous embryos are ~2/3 of normal size and misshapen; at E7.0, some homozygous embryos are observed to be smaller and thinner than other embryos in the litter

cellular
• ~10% of cells are pyknotic compared to <1% in normal embryos

Mouse Models of Human Disease
OMIM ID Ref(s)
NOT Huntington Disease; HD 143100 J:27183


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
11/22/2016
MGI 6.06
The Jackson Laboratory