Cardiac electrophysiology in genetically engineered mice

Journal of Cardiovascular Electrophysiology

Volumn 11, Issue 3, 2000, Pages 354-368

  Gehrmann, Josef ^a   Berul, Charles I ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Animal model; Ex vivo electrophysiology; Functional genomics; In vivo electrophysiology; Mice; Molecular biology

Indexed keywords

GAP JUNCTION PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CARDIOMYOPATHY; CONGENITAL DISORDER; GENE MUTATION; GENE TARGETING; GENETIC ENGINEERING; HEART CONDUCTION; HEART ELECTROPHYSIOLOGY; LONG QT SYNDROME; MOUSE; MUSCULAR DYSTROPHY; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEFECT; SUDDEN DEATH; TRANSGENE;

EID: 0034019713     PISSN: 10453873     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1540-8167.2000.tb01806.x     Document Type: Article

References (114)

1. Brugada R, Roberts R: The molecular genetics of arrhythmias and sudden death. Clin Cardiol 1998;21:553-560.
2. Battey J, Jordan E, Cox D, et al: An action plan for mouse genomics. Nat Genet 1999;21:73-75.
3. Schott JJ, Benson DW, Basson CT, et al: Congenital heart disease caused by mutations in the transcription factor NKX2.5. Science 1998;281:108-111.
4. Geisterfer-Lowrance AAT, Christie ME, Conner D, et al: A mouse model of familial hypertrophic cardiomyopathy. Science 1996;272:732-734.
5. Yang Q, Sanbe A, Osinka H, et al: A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy. J Clin Invest 1998;102:1292-1300.
6. London B, Jeron A, Zhou J, et al: Long QT and ventricular arrhythmias in transgenic mice expressing the N terminus and first transmembrane segment of a voltage-gated potassium channel. Proc Natl Acad Sci U S A 1998;95:2926-2931.
7. Drici MD, Arrighi I, Chouabe C, et al: Involvement of IsK-associated K+ channel in heart rate control of repolarization in a murine engineered model of Jervell and Lange-Nielsen syndrome. Circ Res 1998;83:95-102.
8. Reddy S, Smith DB, Rich MM, et al: Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nat Genet 1996;13:325-335.
9. Simon AM, Goodenough DA, Paul DL: Mice lacking connexin40 have cardiac conduction abnormalities characteristic of first-degree atrioventricular block and bundle branch block. Curr Biol 1998;8:295-298.
10. Reaume AG, deSousa PA, Kulkarni S, et al: Cardiac malformation in neonatal mice lacking connexin43. Science 1995;267:1831-1834.
11. Christensen G, Wang Y, Chien KR: Physiological assessment of complex cardiac phenotypes in genetically engineered mice. Am J Physiol 1997;272:H2513-H2524.
12. Wickman K, Nemec J, Gendler SJ, et al: Abnormal heart rate regulation in GIRK4 knockout mice. Neuron 1998;20:103-114.
13. Jumrussirikul P, Dinerman J, Dawson TM, et al: Interaction between neuronal nitric oxide synthase and inhibitory G protein activity in heart rate regulation in conscious mice. J Clin Invest 1998;102:1279-1285.
14. James JF, Hewett TE, Robbins J: Cardiac physiology in transgenic mice. Circ Res 1998;82:407-415.
15. Janse MJ, Opthof T, Kleber AG: Animal models of cardiac arrhythmias. Cardiovasc Res 1998;39:165-177.
16. Doevendans PA, Daemen MJ, deMuinick ED, et al: Cardiovascular phenotyping in mice. Cardiovasc Res 1998;39:34-49.
17. Vaidya D, Morley GE, Samie FH, Jalife J. Reentry and fibrillation in the mouse heart. A challenge to the critical mass hypothesis. Circ Res 1999;85:174-181.
18. Gray RA, Jalife J, Panfilov A, et al: Nonstationary vortexlike reentrant activity as a mechanism of polymorphic ventricular tachycardia in the isolated rabbit heart. Circulation 1995;91:2454-2469.
19. Drici MD, Burklow TR, Haridasse V, et al: Sex hormones prolong the QT interval and downregulate potassium channel expression in the rabbit heart. Circulation 1996;94:1471-1474.
20. Guerrero PA, Schuessler RB, Lloyd MD, et al: Slow ventricular conduction in mice heterozygous for a connexin43 null mutation. J Clin Invest 1997;99:1991-1998.
21. Thomas SA, Schuessler RB, Berul CI, et al: Disparate effects of deficient expression of connexin43 on atrial and ventricular conduction: Evidence for chamber-specific molecular determinants of conduction. Circulation 1998;97:686-691.
22. Mandapati R, Asano Y, Baxter WT, et al: Quantification of effects of global ischemia on dynamics of ventricular fibrillation in isolated rabbit heart. Circulation 1998;98:1688-1696.
23. Dillon SM, Li KS: In vivo optical mapping of the canine infarct gives first direct evidence of discontinuous activation in ventricular tachycardia. Circulation 1998;I51.
24. Baker LC, London B, Choi BR: Optical mapping of reentrant VT in transgenic mice. Circulation 1999;98:I744.
25. Skanes AC, Mandapati R, Berenfeld O, et al: Spatiotemporal periodicity during atrial fibrillation in the isolated sheep heart. Circulation 1998;98:1236-1248.
26. Garrey WE: The nature of fibrillatory contraction of the heart: Its relation to tissue mass and form. Am J Physiol 1914;33:397-414.
27. Morley GE, Vaidya D, Samie FH, et al: Characterization of conduction in the ventricles of normal and heterozygous Cx43 knockout mice using optical mapping. J Cardiovasc Electrophysiol 1999;10:1361-1375.
28. Berul CI, Aronovitz MJ, Wang PJ, et al: In vivo cardiac electrophysiology studies in the mouse. Circulation 1996;94:2641-2648.
29. Zipes DP: Specific arrhythmias: Diagnosis and treatment. In Braunwald E, ed: Heart Disease: A Textbook of Cardiovascular Medicine. Fourth Edition. WB Saunders, Philadelphia, 1992, pp. 667-725.
30. Hiss RG, Lamb LE: Electrocardiographic findings in 122,043 individuals. Circulation. 1962;25:947-952.
31. Berul CI, Sweeten TL, Dubin AM, et al: Use of rate-corrected JT interval for prediction of repolarization abnormalities in children. Am J Cardiol 1994;74:1254-1257.
32. Bazett HC: An analysis of the time relationships of the heart. Heart 19020;7:353-370.
33. Vetter VL. The pediatric electrophysiology study. In Liebman J, Plonsey R, Rudy Y, eds: Pediatric and Fundamental Electrocardiography. Martinus-Nijhoff, New York, 1985, pp. 161-184.
34. Gillette PC, Buckles DS, Harold M, et al: Intracardiac electrophysiology studies. In Gillette PC, Garson A, eds: Pediatric Arrhythmias: Electrophysiology and Pacing. WB Saunders, Philadelphia, 1990, pp. 216-248.
35. Mandel W, Hayakawa H, Danzig R, et al: Evaluation of sinoatrial node function in man by overdrive suppression. Circulation 1971;44:59-66.
36. Denes P, Wu D, Dhingra R, et al: The effects of cycle length on cardiac refractory periods in man. Circulation 1974;49:32-37.
37. Bisset JK, Kane JJ, De Soyza N, et al: Electrophysiological significance of rapid atrial pacing as a test of atrioventricular conduction. Cardiovasc Res 1975;9;593-600.
38. Han J, Moe GK: Non-uniform recovery of excitability in ventricular muscle. Circ Res 1964;14:44-60.
39. Zabel M, Portnoy S, Franz M: Electrocardiographic indices of dispersion of ventricular repolarization: An isolated heart validation study. J Am Coll Cardiol 1995;25:746-752.
40. Bevilacqua LM, Maguire CT, Seidman JG, et al: QT dispersion in α-myosin heavy-chain familial hypertrophic cardiomyopathy mice. Pediatr Res 1999;45:643-647.
41. Kowey PR, Taylor JE, Marinchak RA, et al: Does programmed stimulation really help in the evaluation of patients with nonsustained ventricular tachycardia? Results of a meta-analysis. Am Heart J 1992;123:481-485.
42. Kramer K, van Acker SA, Voss HP, et al: Use of telemetry to record electrocardiogram and heart rate in freely moving mice. J Pharmacol Toxicol Methods 1993;30:209-215.
43. Hagendorff A, Schumacher B, Kirchhoff S, et al: Conduction disturbances and increased atrial vulnerability in connexin40-deficient mice analyzed by transesophageal stimulation. Circulation 1999;99:1508-1515.
44. Hoit BD, Ball N, Walsh R: Invasive hemodynamics and force-frequency relationships in open- versus closed-chest mice. Am J Physiol 1997;273:H2528-H2533.
45. Tanaka N, Dalton N, Lao L, et al: Transthoracic echocardiography in models of cardiac disease in the mouse. Circulation 1996;94:1109-1117.
46. Hoit BD, Khan ZU, Pawlowski-Dahm CM, et al: In vivo determination of left ventricular wall stress-shortening relationship in normal mice. Am J Physiol 1997;272:H1047-H1052.
47. Witkowski FX, Clark RB, Larsen TS, et al: Voltage-sensitive dye recordings of electrophysiological activation in a Langendorff-perfused mouse heart. Can J Cardiol 1997;13:1077-1082.
48. Berul CI, Christe ME, Aronovitz MJ, et al: Electrophysiological abnormalities and arrhythmias in α-MHC mutant familial hypertrophic cardiomyopathy mice. J Clin Invest 1997;99:570-576.
49. Berul CI, Christe ME, Aronovitz MJ, et al: Familial hypertrophic cardiomyopathy mice display gender differences in electrophysiological abnormalities. J Interven Card Electrophysiol 1998;2:7-14.
50. Chang AC, McAreavey D, Fananapazir L: Identification of patients with hypertrophic cardiomyopathy at high risk for sudden death. Curr Opin Cardiol 1995;10:9-15.
51. Yi G, Elliott P, McKenna WJ, et al: QT dispersion and risk factors for sudden cardiac death in patients with hypertrophic cardiomyopathy. Am J Cardiol 1998;82:1514-1519.
52. McConnell BK, Jones KA, Fatkin D, et al: Dilated cardiomyopathy in homozygous myosin binding protein C mutant mice. J Clin Invest 1999;104:1235-1244.
53. Berul CI, Fatkin D, McConnell BK, et al: Electrophysiological characterization of familial hypertrophic cardiomyopathy mice with mutant myosin binding protein C gene. Circulation 1999;100:I207.
54. Priori SG, Barhanin J, Hauer RNW, et al: Genetic and molecular bases of cardiac arrhythmias: Impact on clinical management Parts I and II. Circulation 1999;99:518-528.
55. Schwartz PJ, Moss AJ, Vincent GM, et al: Diagnostic criteria for the long QT syndrome. An update. Circulation 1993;88:782-784.
56. El-Sherif N, Turitto G: The long QT syndrome and torsade de pointes. PACE 1999;22:91-110.
57. Ks function. Nat Genet 1997;17:338-340.
58. Kuperschmidt S, Yang T, Anderson ME, et al: Replacement by homologous recombination of the minK gene with lacZ reveals restriction on minK expression to the mouse cardiac conduction system. Circ Res 1999;84:146-152.
59. O'Brien SE, Apkon MA, Berul CI, et al: Electrocardiographic phenotype of long QT syndrome in transgenic mouse model expressing human α3 Na,K-ATPase isoform in heart. Circulation 1997;96:I-422.
60. O'Brien TA, Harper PS: Course, prognosis and complications of childhood-onset myotonic dystrophy. Dev Med Child Neurol 1984;26:62-67.
61. Harper PS: Myotonic Dystrophy. Second Edition. WB Saunders. London, UK, 1989.
62. Brook JD, McCurrach ME, Harley HG, et al: Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808.
63. Fu YH, Pizzuti A, Fenwick RG Jr, et al: An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992;255:1256-1258.
64. Mahadevan M, Tsilfidis C, Sabourin L, et al: Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene. Science 1992;255:1253-1255.
65. Hamshere MG, Newman EE, Alwazzan M, et al: Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes. Proc Natl Acad Sci U S A 1997;94:7394-7399.
66. Taneja KL, McCurrach ME, Shalling M, et al: Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol 1995;128:995-1002.
67. Davis BM, McCurrach ME, Taneja KL, et al: Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proc Natl Acad Sci U S A 1997;94:7388-7393.
68. Perloff JK, Stevenson WG, Roberts NK, et al: Cardiac involvement in myotonic muscular dystrophy. Am J Cardiol 1984;54:1074-1081.
69. Fragola PV, Luzi M, Calo L, et al: Cardiac involvement in myotonic dystrophy. Am J Cardiol 1994;74:1070-1072.
70. Prystowski EN, Pritchett ELC, Roses AD, et al: The natural history of conduction system disease in myotonic muscular dystrophy as determined by serial electrophysiologic studies. Circulation 1979;60:1360-1364.
71. Hiromasa S, Ikeda T, Kubota K, et al: A family with myotonic dystrophy associated with diffuse cardiac conduction disturbances as demonstrated by His bundle electrocardiography. Am Heart J 1986;111:85-91.
72. Berul CI, Maguire CT, Aronovitz MJ, et al: DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model. J Clin Invest 1999;103:R1-R7.
73. Mandorla S, Martino C: Familial atrial septal defect with atrioventricular conduction defects. G Ital Cardiol 1998;28:294-296.
74. Benson DW, Sharkey A, Fatkin D, et al: Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects. Circulation 1998;97:2043-2048.
75. Coumel P, Attuel P, Lavalle J, et al: The atrial arrhythmias syndrome of vagal origin. Arch Mal Coeur Vaiss 1978;71:645-656.
76. Coumel P: Autonomic influences in atrial tachyarrhythmias. J Cardiovasc Electrophysiol 1996;7:999-1007.
77. Chen YJ, Chen SA, Tai CT, et al: Role of atrial electrophysiology and autonomic nervous system in patients with supraventricular tachycardia and paroxysmal atrial fibrillation. J Am Coll Cardiol 1998;32:732-738.
78. Schuessler RB, Grayson TM, Bromberg BI, et al: Cholinergically mediated tachyarrhythmias induced by a single extrastimulus in the isolated canine right atrium. Circ Res 1992;71:1254-1267.
79. 2-Ach induced atrial fibrillation (flutter) in mice. Chung Kuo Yao Li Hsueh Pao 1982;3:185-188.
80. Laurita K, Girouard SD, Rudy Y, et al: Role of passive electrical properties during action potential restitution in intact heart. Am J Physiol 1997;273:H1205-H1214.
81. Spach MS: Alignment of myocardial cells and its role in the genesis of cardiac arrhythmias. PACE 1990;13:1535-1540.
82. Beyer EC, Davis LM, Saffitz JE, et al: Cardiac intercellular communication: Consequences of connexin distribution and diversity. Braz J Med Biol Res 1995;28:415-425.
83. Coppen SR, Dupont E, Rothery S, et al: Connexin45 expression is preferentially associated with the ventricular conduction system in mouse and rat heart. Circ Res 1998;82:232-243.
84. Peters NS, Wit AL: Myocardial architecture and ventricular arrhythmogenesis. Circulation 1998;97:1746-1754.
85. deBakker MJ, van Capelle FJ, Janse MJ: Slow conduction in the infarcted human heart. "Zigzag" course of activation. Circulation 1993;88:915-926.
86. Luke RA, Saffitz JE: Remodeling of ventricular conduction pathway in healed canine infarct border zones. J Clin Invest 1991;87:1594-1602.
87. Peters NS: Gap junctions and clinical cardiology: From molecular biology to molecular medicine. Eur Heart J 1997;18:1697-1702.
88. Bevilacqua LM, Simon AM, Maguire CT, et al: A targeted disruption in connexin40 leads to distinct atrioventricular conduction defects. (Abstract) J Am Coll Cardiol 1999;33:1A.
89. Hagendorff A, Schumacher B, Kirchoff S, et al: Conduction disturbances and increased atrial vulnerability in connexin40-deficient mice analyzed by transesophageal stimulation. Circulation 1999;99:1508-1515.
90. Verheule S, Batenburg CA, Coenjaerts FEJ, et al: Cardiac conduction abnormalities in mice lacking the gap junction protein connexin40. J Cardiovasc Electrophysiol 1999;10:1380-1389.
91. Mitchell GF, Jeron A, Koren G: Measurements of heart rate and QT interval in the conscious mouse. Am J Physiol 1998;274:H747-H751.
92. Mansier P, Medigue C, Charlotte N, et al: Decreased heart rate variability in transgenic mice overexpressing atrial beta 1-adrenoceptors. Am J Physiol 1996;271:H1465-H1472.
93. salpha. Circ Res 1998;82:416-423.
94. Sakmann B, Noma A, Trautwein W: Acetylcholine activation of single muscarinic K channels in isolated pacemaker cells of the mammalian heart. Nature 1983;303:250-253.
95. Han X, Kobzik L, Severson D, et al: Characteristics of nitric oxide-mediated cholinergic modulation of calcium current in rabbit sino-atrial node. J Physiol (Lond) 1998;509:741-754.
96. + channel in the heart. Modal regulation by G protein beta gamma subunits. J Gen Physiol 1998;112:199-210.
97. KACh. J Biol Chem 1995;270:29059-29062.
98. Clapham DE, Neer EJ: G protein beta gamma subunits. Annu Rev Pharm Toxicol 1997;37:167-203.
99. Gehrmann J, Maguire CT, Hammer PE, et al: Reduction of atrial G-protein β-subunits leads to abnormal heart rate regulation in genetically-manipulated mice. (Abstract)PACE 1999;22:216.
100. Johansson C, Vennstrom B, Thoren P: Evidence that decreased heart rate in thyroid hormone receptor-alpha1-deficient mice is an intrinsic defect. Am J Physiol 1998;275:R640-R646.
101. Fewell JG, Osinska H, Klevitsky R, et al: A treadmill exercise regimen for identifying cardiovascular phenotypes in transgenic mice. Am J Physiol 1997;273:H1595-H1605.
102. Binah O, Arieli R, Beck R, et al: Ventricular electrophysiological properties: Is interspecies variability related to thyroid state? Am J Physiol 1987;252:H1265-H1274.
103. Wang L, Duff HJ: Developmental changes in transient outward current in mouse ventricle. Circ Res 1997;81:120-127.
104. Tomizuka K, Yoshida H, Uejima H, et al: Functional expression and germline transmission of a human chromosome fragment in chimaeric mice. Nat Genet 1997;16:133-143.
105. Schaper W, Winkler B: Of mice and men: The future of cardiovascular research in the molecular era. Cardiovasc Res 1998;39:3-7.
106. Jones WK, Grupp IL, Doetschmann T, et al: Ablation of the murine myosin heavy chain leads to dosage effects and functional deficits in the heart. J Clin Invest 1996;98:1906-1917.
107. Ackerman MJ, Clapham DE: Ion channels: Basic science and clinical disease. N Engl J Med 1997;336:1575-1586.
108. London B. Cardiac arrhythmias. In Jameson JL, ed: Principles of Molecular Medicine. Humana Press Inc., Totowa, NJ, 1998, p. 159.
109. Priori SG, Barhanin J, Hauer RNW, et al: Genetic and molecular bases of cardiac arrhythmias: Impact on clinical management. Part III. Circulation 1999;99:674-681.
110. Huang XD, Sandusky GE, Zipes DP: Heterogeneous loss of connexin43 protein in ischemic dog hearts. J Cardiovasc Electrophysiol 1999;10:79-91.
111. Peters NS, Coromilas J, Severs NJ, et al: Disturbed connexin43 gap junction distribution correlates with the location of reentrant circuits in the epicardial border zone of healing canine infarcts that cause ventricular tachycardia. Circulation 1997;95:988-996.
112. Diamond LE, McCurry KR, Martin MJ, et al: Characterization of transgenic pigs expressing functionally active human CD59 on cardiac endothelium. Transplantation 1996;61:1241-1249.
113. Brousseau ME, Hoeg JM: Transgenic rabbits as models for atherosclerosis research. J Lipid Res 1999;40:365-375.
114. Larsen JA, Kadish AH: Effects of gender on cardiac arrhythmias. J Cardiovasc Electrophysiol 1998;9:655-664.