IMPC phenotypes (gene matching)
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 : 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