MGI phenotypes (allele matching)
STOCK Gja5tm2.1Kwi/Cnrm
| Status | Available to order |
| EMMA ID | EM:06035 |
| Citation information | RRID:IMSR_EM:06035 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 | STOCK Gja5tm2.1Kwi/Cnrm |
| Alternative name | Cx40A96S |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Gja5tm2.1Kwi |
| Gene/Transgene symbol | Gja5 |
Information from provider
| Provider | Klaus Willecke |
| Provider affiliation | LIMES Institute, University of Bonn |
| Genetic information | The coding sequence of Gja5 (Cx40) was replaced by the Cx40A96S coding sequence. The expression of the Cx40A96S mutation is coupled to an eGFP reporter sequence via an IRES sequence. The neomycin resistance gene for screening of ES cell clones was deleted via the flp recombinase/frt sites system. |
| Phenotypic information | Homozygous Cx40A96S mice exhibit renin-dependent hypertension. |
| Breeding history | The line was backcrossed at least 3 times to C57BL/6N. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Familial atrial fibrillation / Orphanet_334
MGI phenotypes (gene matching)
- abnormal heart morphology / MGI
- double outlet right ventricle / MGI
- abnormal atrioventricular cushion morphology / MGI
- irregular heartbeat / MGI
- no abnormal phenotype detected / MGI
- increased heart rate / MGI
- dilated cardiomyopathy / MGI
- no phenotypic analysis / MGI
- abnormal impulse conducting system conduction / MGI
- prolonged QT interval / MGI
- increased circulating renin level / MGI
- prolonged PR interval / MGI
- abnormal QRS complex / MGI
- prolonged P wave / MGI
- abnormal frontal plane axis / MGI
- bifid atrial appendage / MGI
- decreased mean systemic arterial blood pressure / MGI
- increased susceptibility to injury / MGI
- mitral valve stenosis / MGI
- prolonged QRS complex duration / MGI
- ventricular septal defect / MGI
- ostium primum atrial septal defect / MGI
- pulmonary artery hypoplasia / MGI
- abnormal aortic arch and aortic arch branch attachment / MGI
- abnormal heart electrocardiography waveform feature / MGI
- fragmented QRS complex / MGI
- common atrioventricular valve / MGI
- bundle branch block / MGI
- neonatal lethality, incomplete penetrance / MGI
- prolonged PQ interval / MGI
Literature references
- The connexin 40 A96S mutation causes renin-dependent hypertension.;Lübkemeier Indra, Machura Katharina, Kurtz Lisa, Neubauer Björn, Dobrowolski Radek, Schweda Frank, Wagner Charlotte, Willecke Klaus, Kurtz Armin, ;2011;Journal of the American Society of Nephrology : JASN;22;1031-40; 21597036