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Symbol
Name
ID 		Gja1
gap junction protein, alpha 1
MGI:95713
Phenotype annotations related to cardiovascular system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Abnormal cardiovascular system morphology
Atrial septal defect
Ventricular septal defect
Mitral atresia
Aortic valve atresia
Hypoplastic left heart
Hypoplastic aortic arch
Coarctation of aorta
Patent ductus arteriosus
Aortic valve stenosis
Mitral stenosis
Arrhythmia
Erythema
Facial erythema
Palmoplantar erythema
Disease(s) Associated with GJA1
erythrokeratodermia variabilis
erythrokeratodermia variabilis et progressiva 3
hypoplastic left heart syndrome
oculodentodigital dysplasia
palmoplantar keratoderma and congenital alopecia 1

Mouse Phenotypes
cardiovascular system phenotype
abnormal ascending aorta and coronary artery attachment
abnormal coronary artery morphology
coronary artery aneurysm
coronary fistula
abnormal coronary vein morphology
dilated vasculature
abnormal myocardium layer morphology
abnormal myocardial trabeculae morphology
abnormal trabecula carnea morphology
thin myocardium compact layer
thin right ventricle myocardium compact layer
heart right ventricle hypertrophy
abnormal cardiac outflow tract development
abnormal heart development
abnormal heart morphology
abnormal coronary vessel morphology
patent cardiac foramen ovale
abnormal interventricular septum morphology
abnormal heart shape
small heart
thick aortic valve
abnormal pulmonary valve morphology
thick pulmonary valve
thick semilunar valve
abnormal heart ventricle morphology
dilated heart left ventricle
abnormal heart right ventricle outflow tract morphology
heart right ventricle outflow tract stenosis
decreased heart right ventricle wall thickness
dilated heart right ventricle
ventricular aneurysm
cardiac fibrosis
abnormal cardiovascular system physiology
abnormal blood circulation
abnormal cardiac muscle contractility
decreased ventricle muscle contractility
semilunar valve regurgitation
decreased heart rate
increased heart rate
ventricular tachycardia
irregular heartbeat
ventricular fibrillation
ventricular premature beat
abnormal impulse conducting system conduction
abnormal atrioventricular bundle conduction
prolonged PR interval
atrioventricular block
abnormal heart electrocardiography waveform feature
prolonged P wave
decreased QRS amplitude
prolonged QRS complex duration
prolonged QT interval
shortened QT interval
abnormal R wave
abnormal myocardial fiber physiology
decreased systemic arterial systolic blood pressure
hypotension
abnormal vascular smooth muscle physiology
abnormal vascular smooth muscle cell proliferation
abnormal vascular wound healing
heart inflammation
Availability Mouse Genotype
Gja1Gt(ROSANBetageo)15C3Masn/Gja1Gt(ROSANBetageo)15C3Masn
Gja1tm1.1Gfi/Gja1tm1.1Gfi
Gja1tm1Kdr/Gja1tm1Kdr
Gja1tm1Kdr/Gja1tm1Kdr
Tg(CMV-Gja1)BClo/0
Gja1tm1Kwi/Gja1tm1Kwi *
Gja1tm3.1Clo/Gja1tm3.1Clo
Gja1tm4Kwi/Gja1tm4Kwi
Gja1tm7(Gja2)Kwi/Gja1tm7(Gja2)Kwi
Gja1W45X/Gja1W45X
Tg(CMV-Gja1)BClo/Tg(CMV-Gja1)BClo
Gja1M1Jrt/Gja1+
Gja1tm1.1Gfi/Gja1+
Gja1tm1Kdr/Gja1+
Gja1tm3Gfi/Gja1+ *
Gja1tm7(Gja2)Kwi/Gja1+
Tg(CMV-Gja1)BClo/0
Gja1tm1Dlg/Gja1tm1Dlg
Tg(Tek-cre)1Ywa/0  (conditional)
Gja1tm1Gfi/Gja1tm1Gfi
Tg(Myh6-cre)2182Mds/0  (conditional)
Gja1tm1Gfi/Gja1tm1Gfi
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (conditional)
Gja1tm10Kwi/Gja1tm10Kwi
Tg(Myh6-icre/ERT2)#Wet/0  (conditional)		 *
Gja1tm10Kwi/Gja1tm10Kwi
Tg(Myh6-cre)2182Mds/0  (conditional)		 *
Gja1tm1Gfi/Gja1tm1.1Gfi
Tg(Pax3-cre)1Joe/0  (conditional)
Gja1tm1Kwi/Gja1tm5(cre/ERT)Kwi  (conditional)
Gja1tm8Kwi/Gja1+
Tg(Myh6-cre)2182Mds/0  (conditional)		 *
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/30/2024
MGI 6.23 		The Jackson Laboratory