C57BL/6-Atp1a3tm1.1Stcl/H
Status | Available to order |
EMMA ID | EM:15263 |
International strain name | C57BL/6-Atp1a3tm1.1Stcl/H |
Alternative name | B6-Atp1a3 tm1bStcl (a.k.a. Atp1a3-E309D/D923Y) |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Atp1a3tm1bStcl |
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. Breeding B6-Atp1a3tm1aStcl (EMMA strain ID EM:15262) heterozygotes with the B6-Tg(ACTB-cre)3Mrt/H strain resulted in cre recombinase-mediated excision of the floxed “loxP-SA-CDS of exon 7~23 (D923Y)-3*polyA-loxP” cassette, thereby generating the Atp1a3tm1bStcl allele. |
Phenotypic information | Homozygous:Atp1a3 |
Breeding history | The Atp1a3tm1aStcl mutant allele was introduced into TurboKnockout ES cells (derived from the C57BL/6 strain) and was maintained by backcrossing to the C57BL/6NTac strain. Breeding B6-Atp1a3tm1aStcl (EMMA strain ID EM:15262) heterozygotes with the B6-Tg(ACTB-cre)3Mrt/H strain resulted in cre-mediated excision of the floxed “loxP-SA-CDS of exon 7~23 (D923Y)-3*polyA-loxP” cassette, thereby generating the Atp1a3tm1bStcl allele. |
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
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