IMPC phenotypes (gene matching)
C57BL/6-Atp1a3tm1.1Stcl/H
| Status | Available to order |
| EMMA ID | EM:15263 |
| Citation information | RRID:IMSR_EM:15263 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | C57BL/6-Atp1a3tm1.1Stcl/H |
| Alternative name | B6-Atp1a3 tm1bStcl (a.k.a. Atp1a3-E309D/D923Y) |
| Strain type | Targeted Mutant Strains : Point mutation |
| Allele/Transgene symbol | Atp1a3tm1.1Stcl |
| 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 (or B6-Atp1a3tm1Stcl, EMMA strain 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 (Atp1a3tm1.1Stcl) 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 (or B6-Atp1a3tm1Stcl, EMMA strain 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 (or B6-Atp1a3tm1.1Stcl) 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
MGI phenotypes (gene matching)
- tremors / MGI
- paralysis / MGI
- abnormal temporal lobe morphology / MGI
- abnormal dentate gyrus morphology / MGI
- convulsive seizures / MGI
- decreased body weight / MGI
- decreased body size / MGI
- decreased anxiety-related response / MGI
- ataxia / MGI
- hyperactivity / MGI
- hypoactivity / MGI
- impaired coordination / MGI
- abnormal gait / MGI
- short stride length / MGI
- decreased exploration in new environment / MGI
- abnormal spatial learning / MGI
- abnormal startle reflex / MGI
- abnormal sleep pattern / MGI
- limb grasping / MGI
- increased thermal nociceptive threshold / MGI
- seizures / MGI
- abnormal motor capabilities/coordination/movement / MGI
- premature death / MGI
- abnormal CNS synaptic transmission / MGI
- abnormal respiratory function / MGI
- abnormal sensorimotor gating / MGI
- increased thigmotaxis / MGI
- abnormal long term object recognition memory / MGI
- increased susceptibility to pharmacologically induced seizures / MGI
- astrocytosis / MGI
- abnormal response to novel object / MGI
- nervous system phenotype / MGI
- enhanced coordination / MGI
- impaired passive avoidance behavior / MGI
- abnormal neuron physiology / MGI
- abnormal behavior / MGI
- dystonia / MGI
- homeostasis/metabolism phenotype / MGI
- growth/size/body region phenotype / MGI
- behavior/neurological phenotype / MGI
- abnormal action potential / MGI
- abnormal enzyme/coenzyme activity / MGI
- abnormal spike wave discharge / MGI
- abnormal xenobiotic pharmacokinetics / MGI
- microgliosis / MGI
- decreased prepulse inhibition / MGI
- abnormal seizure response to inducing agent / MGI
- environmentally induced seizures / MGI
- abnormal miniature inhibitory postsynaptic currents / MGI
- impaired contextual conditioning behavior / MGI
- enhanced conditioned place preference behavior / MGI
- enhanced behavioral response to addictive substance / MGI
- increased sensitivity to xenobiotic induced morbidity/mortality / MGI
- abnormal hippocampus granule cell morphology / MGI
- abnormal hippocampus pyramidal cell morphology / MGI
- neonatal lethality, complete penetrance / MGI
- preweaning lethality, incomplete penetrance / MGI
- abnormal habituation / MGI
- abnormal habituation to a new environment / MGI
- abnormal sensitization to xenobiotic / MGI
- decreased frequency of paradoxical sleep / MGI
- abnormal paradoxical sleep pattern / MGI
- abnormal non-rapid eye movement sleep pattern / MGI
- impaired spatial learning / MGI
- increased kindling response / MGI
- prolonged circadian behavior period / MGI