MGI phenotypes (allele matching)
- cardiovascular system phenotype / MGI
B6.129P2-Gja1tm1Kwi/Cnrm
| Status | Available to order |
| EMMA ID | EM:00327 |
| International strain name | B6.129P2-Gja1tm1Kwi/Cnrm |
| Alternative name | Cx43 flox |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Gja1tm1Kwi |
| Gene/Transgene symbol | Gja1 |
Information from provider
| Provider | Klaus WILLECKE |
| Provider affiliation | Molekulargenetik, Institut fuer Genetik, Universitaet Bonn |
| Genetic information | The whole open reading frame (exon 2) of Cx43 (Gja1) is replaced by a three loxP sites-flanked construct, containing exon 2 of Gja1 and a neomycin selection cassette. After cre recombinase-mediated recombination, a lacZ reporter gene is expressed under the control of the endogenous Gja1 promoter. |
| Phenotypic information | No major defects (loxP-flanked allele); reduced expression of Gja1 (Cx43) protein. |
| 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 |
|
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
| Breeding at archiving centre | Backcrossed for 6 generations to C57BL/6J |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Autosomal dominant palmoplantar keratoderma and congenital alopecia / Orphanet_1010
- Oculodentodigital dysplasia / Orphanet_2710
- Craniometaphyseal dysplasia / Orphanet_1522
- Syndactyly type 3 / Orphanet_93404
- Erythrokeratodermia variabilis / Orphanet_317
MGI phenotypes (gene matching)
- delayed bone ossification / MGI
- decreased bone mineral density / MGI
- abnormal neurocranium morphology / MGI
- abnormal parietal bone morphology / MGI
- abnormal tooth development / MGI
- brittle teeth / MGI
- abnormal rib morphology / MGI
- abnormal heart morphology / MGI
- abnormal heart development / MGI
- abnormal heart shape / MGI
- thin ventricular wall / MGI
- abnormal interventricular septum morphology / MGI
- decreased bone marrow cell number / MGI
- abnormal cranium morphology / MGI
- pointed snout / MGI
- syndactyly / MGI
- abnormal ovary morphology / MGI
- small ovary / MGI
- impaired ovarian folliculogenesis / MGI
- abnormal ovarian follicle morphology / MGI
- absent mature ovarian follicles / MGI
- absent corpus luteum / MGI
- small testis / MGI
- abnormal spermatogenesis / MGI
- abnormal skin condition / MGI
- abnormal epidermis stratum granulosum morphology / MGI
- abnormal epidermis stratum corneum morphology / MGI
- decreased body weight / MGI
- decreased body size / MGI
- cataract / MGI
- corneal opacity / MGI
- irregularly shaped pupil / MGI
- abnormal iris morphology / MGI
- abnormal suckling behavior / MGI
- abnormal cardiovascular system physiology / MGI
- cyanosis / MGI
- cardiac hypertrophy / MGI
- abnormal heart rate / MGI
- irregular heartbeat / MGI
- postnatal growth retardation / MGI
- edema / MGI
- heart inflammation / MGI
- abnormal lactation / MGI
- reduced female fertility / MGI
- male infertility / MGI
- female infertility / MGI
- decreased litter size / MGI
- abnormal breathing pattern / MGI
- ovary cysts / MGI
- perinatal lethality / MGI
- premature death / MGI
- abnormal tooth morphology / MGI
- abnormal digit morphology / MGI
- abnormal craniofacial bone morphology / MGI
- no abnormal phenotype detected / MGI
- small heart / MGI
- decreased germ cell number / MGI
- abnormal seminiferous tubule morphology / MGI
- abnormal pulmonary gas exchange / MGI
- abnormal bone marrow cell morphology/development / MGI
- abnormal proerythroblast morphology / MGI
- abnormal neutrophil physiology / MGI
- reduced enamel thickness / MGI
- decreased mature ovarian follicle number / MGI
- oligozoospermia / MGI
- abnormal semilunar valve morphology / MGI
- abnormal pulmonary valve morphology / MGI
- dilated heart left ventricle / MGI
- impaired skin barrier function / MGI
- abnormal cardiac muscle contractility / MGI
- no phenotypic analysis / MGI
- short zygomatic bone / MGI
- abnormal impulse conducting system conduction / MGI
- cardiac fibrosis / MGI
- prolonged QT interval / MGI
- abnormal alisphenoid bone morphology / MGI
- decreased ovulation rate / MGI
- impaired luteinization / MGI
- delayed endochondral bone ossification / MGI
- delayed intramembranous bone ossification / MGI
- maternal effect / MGI
- abnormal milk ejection / MGI
- abnormal nervous system development / MGI
- prolonged PR interval / MGI
- shortened QT interval / MGI
- abnormal heart right ventricle morphology / MGI
- thin myocardium compact layer / MGI
- abnormal trabecula carnea morphology / MGI
- prolonged P wave / MGI
- abnormal coronary artery morphology / MGI
- abnormal atrioventricular bundle conduction / MGI
- abnormal myocardial fiber physiology / MGI
- patent cardiac foramen ovale / MGI
- small frontal bone / MGI
- interparietal bone hypoplasia / MGI
- abnormal zygomatic arch morphology / MGI
- small nasal bone / MGI
- small maxilla / MGI
- small mandible / MGI
- abnormal thoracic cage morphology / MGI
- decreased testis weight / MGI
- abnormal vascular wound healing / MGI
- decreased male germ cell number / MGI
- decreased bone strength / MGI
- abnormal osteoblast physiology / MGI
- decreased cardiac muscle contractility / MGI
- azoospermia / MGI
- abnormal occipital bone morphology / MGI
- abnormal heart ventricle morphology / MGI
- abnormal phalanx morphology / MGI
- abnormal myocardium layer morphology / MGI
- decreased heart rate / MGI
- small cranium / MGI
- abnormal incisor morphology / MGI
- hearing/vestibular/ear phenotype / MGI
- embryo phenotype / MGI
- cardiovascular system phenotype / MGI
- behavior/neurological phenotype / MGI
- vision/eye phenotype / MGI
- abnormal vascular smooth muscle physiology / MGI
- decreased ventricle muscle contractility / MGI
- decreased tympanic ring size / MGI
- semilunar valve regurgitation / MGI
- abnormal cardiac outflow tract development / MGI
- abnormal mammary gland growth during pregnancy / MGI
- abnormal spermatocyte morphology / MGI
- abnormal osteoblast differentiation / MGI
- abnormal granulosa cell morphology / MGI
- ventricular tachycardia / MGI
- abnormal mammary gland alveolus morphology / MGI
- abnormal superovulation / MGI
- ventricular premature beat / MGI
- decreased bone mineral content / MGI
- prolonged QRS complex duration / MGI
- decreased QRS amplitude / MGI
- abnormal heart right ventricle outflow tract morphology / MGI
- heart right ventricle outflow tract stenosis / MGI
- abnormal coronary vein morphology / MGI
- coronary fistula / MGI
- coronary artery aneurysm / MGI
- abnormal heart electrocardiography waveform feature / MGI
- abnormal coronary vessel morphology / MGI
- thick aortic valve / MGI
- thick pulmonary valve / MGI
- integument phenotype / MGI
- postnatal lethality, complete penetrance / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- perinatal lethality, complete penetrance / MGI
- perinatal lethality, incomplete penetrance / MGI
- preweaning lethality, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- lethality throughout fetal growth and development, incomplete penetrance / MGI
- preweaning lethality, incomplete penetrance / MGI
- abnormal mammary gland luminal epithelium morphology / MGI
- small lower incisors / MGI
- small snout / MGI
- thin parietal bone / MGI
- small neurocranium / MGI
Literature references
- Endothelium-specific replacement of the connexin43 coding region by a lacZ reporter gene.;Theis M, de Wit C, Schlaeger T M, Eckardt D, Krüger O, Döring B, Risau W, Deutsch U, Pohl U, Willecke K, ;2001;Genesis (New York, N.Y. : 2000);29;1-13; 11135457
- Connexin43 contributes to electrotonic conduction across scar tissue in the intact heart.;Mahoney Vanessa M, Mezzano Valeria, Mirams Gary R, Maass Karen, Li Zhen, Cerrone Marina, Vasquez Carolina, Bapat Aneesh, Delmar Mario, Morley Gregory E, ;2016;Scientific reports;6;26744; 27244564