B6;129-Gja5tm1Kwi/Cnrm
Status | Available to order |
EMMA ID | EM:01381 |
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 (allele matching)
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
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