MGI phenotypes (allele matching)
B6;129-Gja5tm1Kwi/Cnrm
| Status | Available to order |
| EMMA ID | EM:01381 |
| Citation information | RRID:IMSR_EM:01381 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 | B6;129-Gja5tm1Kwi/Cnrm |
| Alternative name | Cx40 KO |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Gja5tm1Kwi |
| Gene/Transgene symbol | Gja5 |
Information from provider
| Provider | Klaus WILLECKE |
| Provider affiliation | Molekulargenetik, Institut fuer Genetik, Universitaet Bonn |
| Genetic information | Exon 2, including the whole open reading frame of Gja5 (Cx40), is homologously replaced by the neomycin selection marker gene, which is maintained in the genome. |
| Phenotypic information | Heart defects like hypertrophy, arrhythmia |
| Breeding history | After blastocyst-injection the chimeras were bred with C57BL/6NCrl to obtain brown coat coloured offspring. This brown offspring was backcrossed to C57BL/6NCrl more than three times. |
| References |
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Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
| Breeding at archiving centre | Backcrossed to C57BL/6J |
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
- Reduced cardiac conduction velocity and predisposition to arrhythmias in connexin40-deficient mice.;Kirchhoff S, Nelles E, Hagendorff A, Krüger O, Traub O, Willecke K, ;1998;Current biology : CB;8;299-302; 9501070
- Role of connexin40 in the autoregulatory response of the afferent arteriole.;Sorensen Charlotte Mehlin, Giese Isaiah, Braunstein Thomas Hartig, Brasen Jens Christian, Salomonsson Max, Holstein-Rathlou Niels-Henrik, ;2012;American journal of physiology. Renal physiology;303;F855-63; 22811484
- Influence of Connexin40 on the renal myogenic response in murine afferent arterioles.;Jacobsen Jens Christian B, Sorensen Charlotte M, ;2015;Physiological reports;3;961; 26009638
- Lack of Connexins 40 and 45 Reduces Local and Conducted Vasoconstrictor Responses in the Murine Afferent Arterioles.;Møller Sophie, Jacobsen Jens Christian Brings, Holstein-Rathlou Niels-Henrik, Sorensen Charlotte M, ;2020;Frontiers in physiology;11;; 32848881