|
|
| Nomenclature |
|
Symbol:
|
Gt(ROSA)26Sortm1(HD*103Q)Xwy
|
|
Name:
|
gene trap ROSA 26, Philippe Soriano;
targeted mutation 1, X William Yang
|
|
MGI ID: |
MGI:3583991 |
|
Synonyms: |
mhtt-exon1 (103Q), RosaHD |
|
Gene:
|
Gt(ROSA)26Sor
Location:
unknown
Genetic Position: Chr6,
48.7 cM
|
|
Mutation
origin |
|
Germline Transmission:
| Earliest citation of germline transmission:
J:99759
|
|
Parent Cell Line:
| R1 (ES Cell) |
|
Strain of Origin:
|
(129X1/SvJ x 129S1/Sv)F1-Kitl+
|
|
Mutation
description |
|
Allele
Type: |
Targeted (knock-in) |
|
Mutation: |
Insertion |
| |
A targeting vector was designed with a loxP-flanked transcriptional STOP sequence immediately upstream of a neuropathogenic polyQ-mutant form of the human Huntingtin protein exon 1 (mhtt-exon1) sequence (containing 103 mixed CAA-CAG repeats, each encoding glutamine), all followed by a polyadenylation sequence. When these mice are bred with animals expressing cre under the control of a promoter of interest, The STOP signal is deleted in tissue of interest allowing conditional expression of mhtt1-exon1. (J:99759, J:123199) |
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
Phenotype
summary
|
|
Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
|
Key:
|
| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
 |
expected model not found |
|
|
|
|
|
Phenotypic
data by
genotype
|
|
Phenotypic Data by Genotype
(show or
hide all phenotypic details)
|
| Genotype | Allelic Composition | Genetic Background |
|
  cn1
|
Emx1tm1(cre)Ito/?
Gt(ROSA)26Sortm1(HD*103Q)Xwy/? |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL |
nervous system 1One or more human genes may be associated with the human disease. The mouse genotype may involve mutations in orthologous genes, but the phenotype did not resemble the human disease.
2Conditionally targeted allele(s).
|
| Genotype | Allelic Composition | Genetic Background |
|
cn2
Disease Model |
Gt(ROSA)26Sortm1(HD*103Q)Xwy/?
Tg(Nes-cre)1Kln/? |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL |
nervous system behavior/neurological 1The human diseases are associated with human genes, but Gt(ROSA)26Sor is not known to be an ortholog of any of them.
2Conditionally targeted allele(s).
|
|
|
Disease
models
|
1The human diseases are associated with human genes, but Gt(ROSA)26Sor is not known to be an ortholog of any of them.
2Conditionally targeted allele(s).
3One or more human genes may be associated with the human disease. The mouse genotype may involve mutations in orthologous genes, but the phenotype did not resemble the human disease.
|
| References |
|
Original: |
J:99759
Gu X et al.,
"Pathological cell-cell interactions elicited by a neuropathogenic form of mutant Huntingtin contribute to cortical pathogenesis in HD mice."
Neuron 2005 May 5;46(3):433-44
|
|
All: |
2 reference(s)
|
|
