| Primary Identifier | MGI:2388030 | Allele Type | Targeted |
| Attribute String | Humanized sequence, Inserted expressed sequence | Gene | Htt |
| Transmission | Germline | Strain of Origin | 129S1/Sv-Oca2<+> Tyr<+> Kitl<+> |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | 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. |
