MGI phenotypes (allele matching)
B6J.129P2(Cg)-Scn5atm2.1Care/Biat
| Status | Available to order |
| EMMA ID | EM:10619 |
| Citation information | RRID:IMSR_EM:10619 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 | B6J.129P2(Cg)-Scn5atm2.1Care/Biat |
| Alternative name | Delta SIV |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Scn5atm2.1Care |
| Gene/Transgene symbol | Scn5a |
Information from provider
| Provider | Hugues Abriel |
| Provider affiliation | Department of Clinical Research, University of Bern |
| Genetic information | Deletion of the three last amino-acid (SIV) of the voltage-gated sodium channel Nav1.5, constituting a PDZ domain-binding motif that interacts with PDZ proteins (such as syntrophins and SAP 97). Intron 28-3’UTR of SCN5A gene; the serine 2017 residue was mutated to a stop codon (TCT to TGA) and a EcoRV restriction site was introduced within 3’UTR. |
| Phenotypic information | Homozygous:Homozygous Delta SIV mice displayed reduced NaV1.5 expression and sodium current (INa); reduces transversal impulse propagation more than longitudinal propagation of INa, thus leading to increased conduction anisotropy.Heterozygous:No experiments were performed on heterozygous mice. |
| Breeding history | F1 mice were subsequently backcrossed onto the C57BL/6J background (?10 generations) and then intercrossed heterozygously. Every year at least one more step on C57BL/6J. |
| References | None available |
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | University of Veterinary Medicine, Vienna, Austria |
| Animals used for archiving | homozygous Other (please specify below) males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Familial progressive cardiac conduction defect / Orphanet_871
- Familial isolated dilated cardiomyopathy / Orphanet_154
- Romano-Ward syndrome / Orphanet_101016
- Familial atrial fibrillation / Orphanet_334
- Atrial standstill / Orphanet_1344
- Brugada syndrome / Orphanet_130
- Idiopathic ventricular fibrillation, non Brugada type / Orphanet_228140
- Familial sick sinus syndrome / Orphanet_166282
MGI phenotypes (gene matching)
- abnormal cardiovascular system physiology / MGI
- abnormal heart rate / MGI
- irregular heartbeat / MGI
- decreased embryo size / MGI
- seizures / MGI
- premature death / MGI
- no abnormal phenotype detected / MGI
- dilated heart left ventricle / MGI
- dilated cardiomyopathy / MGI
- abnormal cardiac muscle contractility / MGI
- abnormal impulse conducting system conduction / MGI
- cardiac fibrosis / MGI
- prolonged QT interval / MGI
- prolonged PR interval / MGI
- shortened QT interval / MGI
- abnormal trabecula carnea morphology / MGI
- prolonged P wave / MGI
- abnormal atrioventricular bundle conduction / MGI
- abnormal myocardial fiber physiology / MGI
- decreased myocardial fiber number / MGI
- decreased cardiac muscle contractility / MGI
- abnormal heart ventricle morphology / MGI
- decreased heart rate / MGI
- cardiovascular system phenotype / MGI
- abnormal atrioventricular node conduction / MGI
- abnormal sinoatrial node conduction / MGI
- dilated heart ventricle / MGI
- atrial fibrillation / MGI
- ventricular tachycardia / MGI
- increased sensitivity to induced morbidity/mortality / MGI
- prolonged QRS complex duration / MGI
- shortened QRS complex duration / MGI
- abnormal T wave / MGI
- abnormal heart electrocardiography waveform feature / MGI
- shortened PR interval / MGI
- atrioventricular block / MGI
- sinus bradycardia / MGI
- mortality/aging / MGI
- postnatal lethality, incomplete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- prolonged PQ interval / MGI
- embryo tissue necrosis / MGI