- 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
STOCK Gja1tm11.1Kwi/Cnrm
Status | Available to order |
EMMA ID | EM:09091 |
Citation information | RRID:IMSR_EM:09091 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 Gja1tm11.1Kwi/Cnrm |
Alternative name | B6N;129P2-Gja1tm79Kwi/Cnrm |
Strain type | Targeted Mutant Strains : Conditional mutation |
Allele/Transgene symbol | Gja1tm11.1Kwi |
Gene/Transgene symbol | Gja1 |
Information from provider
Provider | Klaus Willecke |
Provider affiliation | Molecular Genetics, Limes Institute |
Genetic information | Cx43floxCx43E42K |
Phenotypic information | Homozygous:Have not been investigatedHeterozygous:Heterozygous cardiac-restricted Cx43E42K mutated mice die neonatally without major cardiac morphological defects. Electrocardiographic recordings of embryonic Cx43+/E42K mice reveal severely disturbed ventricular activation, whereas immunohistochemical analyses show normal localization and expression patterns of gap junctional Cx43 protein in the Cx43E42K mutated newborn mouse heart. |
References |
|
Homozygous fertile | yes |
Homozygous viable | yes |
Homozygous matings required | yes |
Immunocompromised | not known |
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
- 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)
Literature references
- Human Connexin43E42K mutation from a sudden infant death victim leads to impaired ventricular activation and neonatal death in mice.;Lübkemeier Indra, Bosen Felicitas, Kim Jung-Sun, Sasse Philipp, Malan Daniela, Fleischmann Bernd K, Willecke Klaus, ;2015;Circulation. Cardiovascular genetics;8;21-9; 25504652
Information on how we integrate external resources can be found here
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