Htttm2Msl
Targeted Allele Detail
|
|
| Symbol: |
Htttm2Msl |
| Name: |
huntingtin; targeted mutation 2, Michael S Levine |
| MGI ID: |
MGI:2388032 |
| Synonyms: |
CAG94, HdhQ94 |
| Gene: |
Htt Location: Chr5:34919084-35069878 bp, + strand Genetic Position: Chr5, 17.92 cM
|
| Alliance: |
Htttm2Msl page
|
|
|
|
| Allele Type: |
|
Targeted (Humanized sequence, Inserted expressed sequence) |
| Mutation: |
|
Insertion
|
| |
|
Htttm2Msl expresses
1 gene
Knock-in expresses:
| Organism |
Expressed Gene |
Homolog in Mouse |
Note |
| human |
HTT (3064) |
|
Expresses a human HD sequence obtained from a juvenile HD lymphoblastoid cell line |
|
| |
|
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 94 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)
|
|
|
View phenotypes and curated references for all genotypes (concatenated display).
|
|
|
| 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
|
| Carrying any Htt Mutation: |
178 strains or lines available
|
|
| 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: |
5 reference(s) |
|
Analysis Tools
