C57BL/6-Atp1a3tm1Stcl/H
| Status | Available to order |
| EMMA ID | EM:15262 |
| International strain name | C57BL/6-Atp1a3tm1Stcl/H |
| Alternative name | B6-Atp1a3 tm1aStcl (a.k.a. Atp1a3-D923Y; MU225) |
| Strain type | Targeted Mutant Strains |
| Allele/Transgene symbol | Atp1a3tm1aStcl |
| Gene/Transgene symbol | Atp1a3 |
Information from provider
| Provider | Steven Clapcote |
| Provider affiliation | School of Biomedical Sciences, University of Leeds |
| Genetic information | A targeting vector consisting of a floxed “loxP-SA-CDS of exon 7~23 (D923Y)-3*polyA-loxP” cassette followed downstream by a “SA-CDS of exon 7~23 (E309D/D923Y)-polyA” cassette was introduced into intron 6 of Atp1a3 by Cyagen Biosciences Inc. |
| Phenotypic information | Homozygous:Atp1a3 |
| Breeding history | The Atp1a3tm1aStcl mutant allele was introduced into TurboKnockout ES cells (derived from the C57BL/6 strain) and has been maintained by backcrossing to the C57BL/6NTac strain. The line is currently maintained by breeding wild-type females from the colony with heterozygous males. |
| References | None available |
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome / Orphanet_1171
- Rapid-onset dystonia-parkinsonism / Orphanet_71517
- Alternating hemiplegia of childhood / Orphanet_2131
- Non-specific early-onset epileptic encephalopathy / Orphanet_442835