Htttm1Msl
Targeted Allele Detail
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Symbol: |
Htttm1Msl |
Name: |
huntingtin; targeted mutation 1, Michael S Levine |
MGI ID: |
MGI:2388030 |
Synonyms: |
CAG71 |
Gene: |
Htt Location: Chr5:34919084-35069878 bp, + strand Genetic Position: Chr5, 17.92 cM
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Alliance: |
Htttm1Msl page
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Allele Type: |
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Targeted (Humanized sequence, Inserted expressed sequence) |
Mutation: |
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Insertion
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Mutation details: A fragment extending from 18 bp upstream of the polyglutamine stretch in exon 1 to 100 bp into intron 1 was replaced with human HD sequence obtained from a juvenile HD lymphoblastoid cell line. Though the initial construct was believed to contain 71 CAG repeats, sequence analysis identified an A to G point mutation in the 42nd CAG repeat, resulting in an arginine encoding triplet. Western blot analysis of heterozygous mice verified the expression of the mutant protein.
(J:76018)
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View phenotypes and curated references for all genotypes (concatenated display).
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Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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Carrying any Htt Mutation: |
178 strains or lines available
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Original: |
J:76018 Levine MS, et al., Enhanced sensitivity to N-methyl-D-aspartate receptor activation in transgenic and knockin mouse models of Huntington's disease. J Neurosci Res. 1999 Nov 15;58(4):515-32 |
All: |
2 reference(s) |
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