Gene Symbol: Tnni3
Description: troponin I, cardiac 3
Alias: Tn1, cTnI, troponin I, cardiac muscle, cardiac troponin I
Species: mouse
Products:     Tnni3

Top Publications

  1. Wang Y, Pinto J, Solis R, Dweck D, Liang J, Diaz Perez Z, et al. Generation and functional characterization of knock-in mice harboring the cardiac troponin I-R21C mutation associated with hypertrophic cardiomyopathy. J Biol Chem. 2012;287:2156-67 pubmed publisher
    The R21C substitution in cardiac troponin I (cTnI) is the only identified mutation within its unique N-terminal extension that is associated with hypertrophic cardiomyopathy (HCM) in man...
  2. Mommersteeg M, Andrews W, Ypsilanti A, Zelina P, Yeh M, Norden J, et al. Slit-roundabout signaling regulates the development of the cardiac systemic venous return and pericardium. Circ Res. 2013;112:465-75 pubmed publisher
    ..Reduced Slit3 binding in the absence of Robo1, causing impaired cardiac neural crest survival, adhesion, and migration, underlies the pericardial defects. ..
  3. Huang X, Pi Y, Lee K, Henkel A, Gregg R, Powers P, et al. Cardiac troponin I gene knockout: a mouse model of myocardial troponin I deficiency. Circ Res. 1999;84:1-8 pubmed
    ..Mice lacking cardiac troponin I were born healthy, with normal heart and body weight, because a fetal troponin I isoform (identical to slow ..
  4. Guenet J, Simon Chazottes D, Gravel M, Hastings K, Schiaffino S. Cardiac and skeletal muscle troponin I isoforms are encoded by a dispersed gene family on mouse chromosomes 1 and 7. Mamm Genome. 1996;7:13-5 pubmed
    ..The cardiac troponin I locus (Tnni3) also mapped to Chr 7, approximately 5-10 cM from the centromere and unlinked to the fast ..
  5. Lu Q, Hinken A, Patrick S, Solaro R, Kobayashi T. Phosphorylation of cardiac troponin I at protein kinase C site threonine 144 depresses cooperative activation of thin filaments. J Biol Chem. 2010;285:11810-7 pubmed publisher
    There is evidence for PKC-dependent multisite phosphorylation of cardiac troponin I (cTnI) at Ser-23 and Ser-24 (also PKA sites) in the cardiac-specific N-terminal extension and at Thr-144, a unique residue in the inhibitory region...
  6. Vicente Steijn R, Scherptong R, Kruithof B, Duim S, Goumans M, Wisse L, et al. Regional differences in WT-1 and Tcf21 expression during ventricular development: implications for myocardial compaction. PLoS ONE. 2015;10:e0136025 pubmed publisher
    ..These findings may relate to lateralized differences in ventricular (patho)morphology in humans. ..
  7. Pi Y, Kemnitz K, Zhang D, Kranias E, Walker J. Phosphorylation of troponin I controls cardiac twitch dynamics: evidence from phosphorylation site mutants expressed on a troponin I-null background in mice. Circ Res. 2002;90:649-56 pubmed
    The cardiac myofilament protein troponin I (cTnI) is phosphorylated by protein kinase C (PKC), a family of serine/threonine kinases activated within heart muscle by a variety of agonists...
  8. Itoh S, Ding B, Bains C, Wang N, Takeishi Y, Jalili T, et al. Role of p90 ribosomal S6 kinase (p90RSK) in reactive oxygen species and protein kinase C beta (PKC-beta)-mediated cardiac troponin I phosphorylation. J Biol Chem. 2005;280:24135-42 pubmed
    Protein kinase C (PKC)-induced phosphorylation of cardiac troponin I (cTnI) depresses the acto-myosin interaction and may be important during the progression of heart failure...
  9. He L, Tian X, Zhang H, Hu T, Huang X, Zhang L, et al. BAF200 is required for heart morphogenesis and coronary artery development. PLoS ONE. 2014;9:e109493 pubmed publisher
    ..Our work revealed that PBAF complex plays a critical role in heart morphogenesis and coronary artery angiogenesis. ..

More Information


  1. Vikhorev P, Song W, Wilkinson R, Copeland O, Messer A, Ferenczi M, et al. The dilated cardiomyopathy-causing mutation ACTC E361G in cardiac muscle myofibrils specifically abolishes modulation of Ca(2+) regulation by phosphorylation of troponin I. Biophys J. 2014;107:2369-80 pubmed publisher
    ..Moreover, the DCM-causing mutation ACTC E361G blunts this phosphorylation-dependent response without affecting other parameters of contraction, including length-dependent activation and the response to EMD57033. ..
  2. Ramsbottom S, Sharma V, Rhee H, Eley L, Phillips H, Rigby H, et al. Vangl2-regulated polarisation of second heart field-derived cells is required for outflow tract lengthening during cardiac development. PLoS Genet. 2014;10:e1004871 pubmed publisher
    ..Thus, Vangl2-regulated polarisation and subsequent acquisition of an epithelial phenotype is essential to lengthen the tubular outflow vessel, a process that is essential for on-going cardiac morphogenesis. ..
  3. Greulich F, Trowe M, Leffler A, Stoetzer C, Farin H, Kispert A. Misexpression of Tbx18 in cardiac chambers of fetal mice interferes with chamber-specific developmental programs but does not induce a pacemaker-like gene signature. J Mol Cell Cardiol. 2016;97:140-9 pubmed publisher
  4. Franco D, Icardo J. Molecular characterization of the ventricular conduction system in the developing mouse heart: topographical correlation in normal and congenitally malformed hearts. Cardiovasc Res. 2001;49:417-29 pubmed
    ..Our results do not provide evidence to support an extra-cardiac origin of the ventricular CS. ..
  5. Du J, Liu J, Feng H, Hossain M, Gobara N, Zhang C, et al. Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI. Am J Physiol Heart Circ Physiol. 2008;294:H2604-13 pubmed publisher
    Transgenic mice were generated to express a restrictive cardiomyopathy (RCM) human cardiac troponin I (cTnI) R192H mutation in the heart (cTnI(193His) mice)...
  6. Kimura A, Harada H, Park J, Nishi H, Satoh M, Takahashi M, et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet. 1997;16:379-82 pubmed
    ..elements in cardiac muscle, we have systematically characterized the cardiac sarcomere genes, including cardiac troponin I (cTnI), cardiac actin (cACT) and cardiac troponin C (cTnC) in 184 unrelated patients with HCM and found ..
  7. Christoffels V, Grieskamp T, Norden J, Mommersteeg M, Rudat C, Kispert A. Tbx18 and the fate of epicardial progenitors. Nature. 2009;458:E8-9; discussion E9-10 pubmed publisher
  8. Memo M, Leung M, Ward D, dos Remedios C, Morimoto S, Zhang L, et al. Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²? sensitivity. Cardiovasc Res. 2013;99:65-73 pubmed publisher
    ..thin filaments (E40K, E54K, and D230N in ?-tropomyosin; R141W and ?K210 in cardiac troponin T; K36Q in cardiac troponin I; G159D in cardiac troponin C, and E361G in cardiac ?-actin)...
  9. Christoffels V, Mommersteeg M, Trowe M, Prall O, de Gier de Vries C, Soufan A, et al. Formation of the venous pole of the heart from an Nkx2-5-negative precursor population requires Tbx18. Circ Res. 2006;98:1555-63 pubmed
  10. Nishii K, Morimoto S, Minakami R, Miyano Y, Hashizume K, Ohta M, et al. Targeted disruption of the cardiac troponin T gene causes sarcomere disassembly and defects in heartbeat within the early mouse embryo. Dev Biol. 2008;322:65-73 pubmed publisher
  11. McKee L, Chen H, Regan J, Behunin S, Walker J, Walker J, et al. Sexually dimorphic myofilament function and cardiac troponin I phosphospecies distribution in hypertrophic cardiomyopathy mice. Arch Biochem Biophys. 2013;535:39-48 pubmed publisher
    ..We also measured the distribution of cardiac troponin I (cTnI) phosphospecies using phosphate-affinity SDS-PAGE...
  12. Sumandea M, Vahebi S, SUMANDEA C, Garcia Cazarin M, Staidle J, Homsher E. Impact of cardiac troponin T N-terminal deletion and phosphorylation on myofilament function. Biochemistry. 2009;48:7722-31 pubmed publisher
    ..with recombinant cTn engineered to contain modified cTnT (truncated, phosphorylated) in the presence of wild-type cTnI and cTnC...
  13. Kracklauer M, Feng H, Jiang W, Lin J, Lin J, Jin J. Discontinuous thoracic venous cardiomyocytes and heart exhibit synchronized developmental switch of troponin isoforms. FEBS J. 2013;280:880-91 pubmed publisher
  14. Bardswell S, Cuello F, Rowland A, Sadayappan S, Robbins J, Gautel M, et al. Distinct sarcomeric substrates are responsible for protein kinase D-mediated regulation of cardiac myofilament Ca2+ sensitivity and cross-bridge cycling. J Biol Chem. 2010;285:5674-82 pubmed publisher
    Protein kinase D (PKD), a serine/threonine kinase with emerging cardiovascular functions, phosphorylates cardiac troponin I (cTnI) at Ser(22)/Ser(23), reduces myofilament Ca(2+) sensitivity, and accelerates cross-bridge cycle kinetics...
  15. Pyle W, Sumandea M, Solaro R, de Tombe P. Troponin I serines 43/45 and regulation of cardiac myofilament function. Am J Physiol Heart Circ Physiol. 2002;283:H1215-24 pubmed
    ..and actomyosin ATPase rate in detergent extracted fiber bundles isolated from transgenic mice (TG), in which cardiac troponin I (cTnI) serines 43 and 45 were mutated to alanines (cTnI S43A/S45A)...
  16. Mommersteeg M, Domínguez J, Wiese C, Norden J, de Gier de Vries C, Burch J, et al. The sinus venosus progenitors separate and diversify from the first and second heart fields early in development. Cardiovasc Res. 2010;87:92-101 pubmed publisher
    ..After patterning of the cardiogenic mesoderm, this progenitor population remains spatially separated and genetically distinctive from the second heart field subpopulation. ..
  17. Bhavsar P, Brand N, Yacoub M, Barton P. Isolation and characterization of the human cardiac troponin I gene (TNNI3). Genomics. 1996;35:11-23 pubmed
    ..Here we describe the isolation and characterization of the human TnIc gene (HGMW-approved symbol TNNI3) and its promoter. The gene comprises eight exons contained within 6.2 kb of genomic DNA...
  18. Barbato J, Huang Q, Hossain M, Bond M, Jin J. Proteolytic N-terminal truncation of cardiac troponin I enhances ventricular diastolic function. J Biol Chem. 2005;280:6602-9 pubmed
    Besides the core structure conserved in all troponin I isoforms, cardiac troponin I (cTnI) has an N-terminal extension that contains phosphorylation sites for protein kinase A under beta-adrenergic regulation...
  19. Sakthivel S, Finley N, Rosevear P, Lorenz J, Gulick J, Kim S, et al. In vivo and in vitro analysis of cardiac troponin I phosphorylation. J Biol Chem. 2005;280:703-14 pubmed
    Adrenergic stimulation induces positive changes in cardiac contractility and relaxation. Cardiac troponin I is phosphorylated at different sites by protein kinase A and protein kinase C, but the effects of these post-translational ..
  20. Rudat C, Norden J, Taketo M, Kispert A. Epicardial function of canonical Wnt-, Hedgehog-, Fgfr1/2-, and Pdgfra-signalling. Cardiovasc Res. 2013;100:411-21 pubmed publisher
    ..Canonical Wnt-, Hh-, and Fgfr1/Fgfr2-signalling are dispensable for epicardial development, but Pdgfra-signalling is crucial for the differentiation of cardiac fibroblasts from epicardium-derived cells. ..
  21. Dweck D, Sanchez Gonzalez M, Chang A, Dulce R, Badger C, Koutnik A, et al. Long term ablation of protein kinase A (PKA)-mediated cardiac troponin I phosphorylation leads to excitation-contraction uncoupling and diastolic dysfunction in a knock-in mouse model of hypertrophic cardiomyopathy. J Biol Chem. 2014;289:23097-111 pubmed publisher
    The cardiac troponin I (cTnI) R21C (cTnI-R21C) mutation has been linked to hypertrophic cardiomyopathy and renders cTnI incapable of phosphorylation by PKA in vivo...
  22. Engel P, Hinken A, Solaro R. Differential effects of phosphorylation of regions of troponin I in modifying cooperative activation of cardiac thin filaments. J Mol Cell Cardiol. 2009;47:359-64 pubmed publisher
    Ischemia and heart failure are associated with protein kinase C (PKC) dependent phosphorylation of cardiac troponin I (cTnI). We investigated the effect of phosphorylation of cTnI PKC sites S43, S45 and T144 under normal (pH 7...
  23. MacGowan G, Rager J, Shroff S, Mathier M. In vivo alpha-adrenergic responses and troponin I phosphorylation: anesthesia interactions. J Appl Physiol (1985). 2005;98:1163-70 pubmed
    ..Thus choice of a negative inotropic anesthetic agent (avertin) with phenylephrine can lead to profound contractile dysfunction...
  24. Zhou T, Li J, Zhao P, Liu H, Jia D, Jia H, et al. Palmitoyl acyltransferase Aph2 in cardiac function and the development of cardiomyopathy. Proc Natl Acad Sci U S A. 2015;112:15666-71 pubmed publisher
    ..These findings establish Aph2 as a critical in vivo regulator of cardiac function and reveal roles for protein palmitoylation in the development of other organs including eyes. ..
  25. Iorga B, Blaudeck N, Solzin J, Neulen A, Stehle I, Lopez Davila A, et al. Lys184 deletion in troponin I impairs relaxation kinetics and induces hypercontractility in murine cardiac myofibrils. Cardiovasc Res. 2008;77:676-86 pubmed
    To understand the functional consequences of the Lys184 deletion in murine cardiac troponin I (mcTnI(DeltaK184)), we have studied the primary effects of this mutation linked to familial hypertrophic cardiomyopathy (FHC) at the sarcomeric ..
  26. Nan C, Huang X. Transcription factor Yin Yang 1 represses fetal troponin I gene expression in neonatal myocardial cells. Biochem Biophys Res Commun. 2009;378:62-7 pubmed publisher
    ..that the fetal troponin I gene expression in neonatal myocardium was reduced by overexpression of YY1, while cardiac troponin I (cTnI) did not show any significant decrease...
  27. Pi Y, Zhang D, Kemnitz K, Wang H, Walker J. Protein kinase C and A sites on troponin I regulate myofilament Ca2+ sensitivity and ATPase activity in the mouse myocardium. J Physiol. 2003;552:845-57 pubmed
    b>Cardiac troponin I (cTnI) is a phosphoprotein subunit of the troponin-tropomyosin complex that is thought to inhibit cardiac muscle contraction during diastole...
  28. Burkart E, Sumandea M, Kobayashi T, Nili M, Martin A, Homsher E, et al. Phosphorylation or glutamic acid substitution at protein kinase C sites on cardiac troponin I differentially depress myofilament tension and shortening velocity. J Biol Chem. 2003;278:11265-72 pubmed
    There is evidence that multi-site phosphorylation of cardiac troponin I (cTnI) by protein kinase C is important in both long- and short-term regulation of cardiac function...
  29. Henze M, Patrick S, Hinken A, Scruggs S, Goldspink P, de Tombe P, et al. New insights into the functional significance of the acidic region of the unique N-terminal extension of cardiac troponin I. Biochim Biophys Acta. 2013;1833:823-32 pubmed publisher
    ..a special functional role for an acidic region composed of residues 1-10 in the unique N-terminal peptide of cardiac troponin I (cTnI)...
  30. Oliveira S, Zhang Y, Solis R, Isackson H, Bellahcene M, Yavari A, et al. AMP-activated protein kinase phosphorylates cardiac troponin I and alters contractility of murine ventricular myocytes. Circ Res. 2012;110:1192-201 pubmed publisher
    ..2-hybrid screen of a human heart cDNA library using the N-terminal 273 residues of γ2 as bait identified cardiac troponin I (cTnI) as a putative interactor...
  31. Kruithof B, Kruithof de Julio M, Poelmann R, Gittenberger de Groot A, Gaussin V, Goumans M. Remodeling of the myocardium in early trabeculation and cardiac valve formation; a role for TGF?2. Int J Dev Biol. 2013;57:853-63 pubmed publisher
    ..Based on these results we propose a new model clarifying early trabeculae formation and AV valve formation and provide new inroads for an enhanced understanding of congenital heart defects. ..
  32. Wu B, Zhang Z, Lui W, Chen X, Wang Y, Chamberlain A, et al. Endocardial cells form the coronary arteries by angiogenesis through myocardial-endocardial VEGF signaling. Cell. 2012;151:1083-96 pubmed publisher
    ..This information may help develop better cell therapies for coronary artery disease...
  33. Liu X, Zhang L, Pacciulli D, Zhao J, Nan C, Shen W, et al. Restrictive Cardiomyopathy Caused by Troponin Mutations: Application of Disease Animal Models in Translational Studies. Front Physiol. 2016;7:629 pubmed publisher
    b>Cardiac troponin I (cTnI) plays a critical role in regulation of cardiac function...
  34. Barton P, Mullen A, Cullen M, Dhoot G, Simon Chazottes D, Guenet J. Genes encoding troponin I and troponin T are organized as three paralogous pairs in the mouse genome. Mamm Genome. 2000;11:926-9 pubmed
  35. Ayaz Guner S, Zhang J, Li L, Walker J, Ge Y. In vivo phosphorylation site mapping in mouse cardiac troponin I by high resolution top-down electron capture dissociation mass spectrometry: Ser22/23 are the only sites basally phosphorylated. Biochemistry. 2009;48:8161-70 pubmed publisher
    b>Cardiac troponin I (cTnI) is the inhibitory subunit of cardiac troponin, a key myofilament regulatory protein complex located on the thin filaments of the contractile apparatus...
  36. Hyde A, Farmer E, Easley K, van Lammeren K, Christoffels V, Barycki J, et al. UDP-glucose dehydrogenase polymorphisms from patients with congenital heart valve defects disrupt enzyme stability and quaternary assembly. J Biol Chem. 2012;287:32708-16 pubmed
    ..The identification of these polymorphisms in patient populations will help identify families genetically at risk for valve defects. ..
  37. Hua L, Vedantham V, Barnes R, Hu J, Robinson A, Bressan M, et al. Specification of the mouse cardiac conduction system in the absence of Endothelin signaling. Dev Biol. 2014;393:245-254 pubmed publisher
  38. Nixon B, Walton S, Zhang B, Brundage E, Little S, Ziolo M, et al. Combined troponin I Ser-150 and Ser-23/24 phosphorylation sustains thin filament Ca(2+) sensitivity and accelerates deactivation in an acidic environment. J Mol Cell Cardiol. 2014;72:177-85 pubmed publisher
  39. Kaya Z, Katus H, Rose N. Cardiac troponins and autoimmunity: their role in the pathogenesis of myocarditis and of heart failure. Clin Immunol. 2010;134:80-8 pubmed publisher
    ..Finally we identified an 18-mer of troponin I containing an immuno-dominant epitope. ..
  40. Ding J, Xu X, Yang D, Chu P, Dalton N, Ye Z, et al. Dilated cardiomyopathy caused by tissue-specific ablation of SC35 in the heart. EMBO J. 2004;23:885-96 pubmed
    ..These studies raise a new paradigm for the etiology of certain human heart diseases of genetic or environmental origin that may be triggered by dysfunction in RNA processing. ..
  41. Sancho Solis R, Ge Y, Walker J. A preferred AMPK phosphorylation site adjacent to the inhibitory loop of cardiac and skeletal troponin I. Protein Sci. 2011;20:894-907 pubmed publisher
    ..Here, we demonstrate that troponin I isoforms of cardiac (cTnI) and fast skeletal (fsTnI) muscles are readily phosphorylated by AMPK...
  42. Tevosian S, Deconinck A, Tanaka M, Schinke M, Litovsky S, Izumo S, et al. FOG-2, a cofactor for GATA transcription factors, is essential for heart morphogenesis and development of coronary vessels from epicardium. Cell. 2000;101:729-39 pubmed
    ..Our findings provide the molecular inroad into the induction of coronary vasculature by myocardium in the developing heart. ..
  43. Bermingham N, Hernandez D, Balfour A, Gilmour F, Martin J, Fisher E. Mapping TNNC1, the gene that encodes cardiac troponin I in the human and the mouse. Genomics. 1995;30:620-2 pubmed
    ..We have also mapped the mouse Tnnc1 locus, by following the segregation of an intron sequence through DNAs from the European Interspecific Backcross. Tnnc1 maps close to the centromere on mouse chromosome 7. ..
  44. Hastings K. Strong evolutionary conservation of broadly expressed protein isoforms in the troponin I gene family and other vertebrate gene families. J Mol Evol. 1996;42:631-40 pubmed
    ..The expression breadth/evolutionary rate relationship has several interesting implications regarding the overall process of gene family evolution by duplication/divergence from ancestral genes. ..
  45. Kobayashi T, Solaro R. Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I. J Biol Chem. 2006;281:13471-7 pubmed
    To understand the molecular mechanisms whereby cardiomyopathy-related cardiac troponin I (cTnI) mutations affect myofilament activity, we have investigated the Ca2+ binding properties of various assemblies of the regulatory components ..
  46. Kobayashi T, Patrick S, Kobayashi M. Ala scanning of the inhibitory region of cardiac troponin I. J Biol Chem. 2009;284:20052-60 pubmed publisher
    ..In this study, we created a series of Ala-substitution mutants of cTnI to delineate the functional contribution of each amino acid in the inhibitory region to myofilament regulation...
  47. Duncan J, Ravi R, Stull L, Murphy A. Chronic xanthine oxidase inhibition prevents myofibrillar protein oxidation and preserves cardiac function in a transgenic mouse model of cardiomyopathy. Am J Physiol Heart Circ Physiol. 2005;289:H1512-8 pubmed
    ..These findings indicate that chronic inhibition of xanthine oxidase can alter the progression of heart failure in dilated cardiomyopathy. ..
  48. Opherk J, Yampolsky P, Hardt S, Schoels W, Katus H, Koenen M, et al. Cardiac-specific activation of Cre expression at late fetal development. Biochem Biophys Res Commun. 2007;359:209-13 pubmed
    ..3kb murine cardiac Troponin I gene (cTnI) promoter. Cre-GFP expression, similar in three transgenic lines, is described in one line...
  49. Millino C, Sarinella F, Tiveron C, Villa A, Sartore S, Ausoni S. Cardiac and smooth muscle cell contribution to the formation of the murine pulmonary veins. Dev Dyn. 2000;218:414-25 pubmed
    ..1990] J Cell Biol 111:2427-2436; Jones et al. [1994] Dev Dyn 200:117-128). We used transgenic mice for the cardiac troponin I (cTNI) gene and smooth muscle (SM) myosin heavy chain as differentiation markers, to analyze how cardiac and ..
  50. Yasuda S, Coutu P, Sadayappan S, Robbins J, Metzger J. Cardiac transgenic and gene transfer strategies converge to support an important role for troponin I in regulating relaxation in cardiac myocytes. Circ Res. 2007;101:377-86 pubmed
    Elucidating the relative roles of cardiac troponin I (cTnI) and phospholamban (PLN) in beta-adrenergic-mediated hastening of cardiac relaxation has been challenging and controversial...
  51. Arteaga G, Warren C, Milutinovic S, Martin A, Solaro R. Specific enhancement of sarcomeric response to Ca2+ protects murine myocardium against ischemia-reperfusion dysfunction. Am J Physiol Heart Circ Physiol. 2005;289:H2183-92 pubmed
    ..transgenic (TG) mice with a constitutive increase in myofilament Ca2+ sensitivity in which the adult form of cardiac troponin I (cTnI) is stoichiometrically replaced with the embryonic/neonatal isoform, slow skeletal TnI (ssTnI)...
  52. Li Y, Charles P, Nan C, Pinto J, Wang Y, Liang J, et al. Correcting diastolic dysfunction by Ca2+ desensitizing troponin in a transgenic mouse model of restrictive cardiomyopathy. J Mol Cell Cardiol. 2010;49:402-11 pubmed publisher
    Several cardiac troponin I (cTnI) mutations are associated with restrictive cardiomyopathy (RCM) in humans. We have created transgenic mice (cTnI(193His) mice) that express the corresponding human RCM R192H mutation...
  53. Zhao W, Dhoot G. Both smooth and skeletal muscle precursors are present in foetal mouse oesophagus and they follow different differentiation pathways. Dev Dyn. 2000;218:587-602 pubmed