Animal models of aganglionosis

Hirschsprung's Disease and Allied Disorders

Volumn , Issue , 2008, Pages 51-62

  Alzahem, A M ^a   Cass, D T ^a  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84892304902     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-540-33935-9_4     Document Type: Chapter

References (119)

1. Derrick EH, St George-Grambauer BM (1957) Megacolon in mice. J Path Bacteriol 73:569-571
2. Bielschowsky M, Schofield GC (1962) Studies on megacolon in piebald mice. Aust J Exp Biol Med Sci 40:395-404
3. Lane PW (1966) Association of megacolon with two recessive spotting genes in the mouse. J Hered 57:181-183
4. Ikadai H, Agematsu Y, Imamichi T (1979) Observation of congenital aganglionosis rat (Hirschsprung's disease rate) and its genetic analysis (in Japanese). Congen Anom 19:31-36
5. Lane PW, Liu HM (1984) Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered 75:335-339
6. Dietzmann VU (1968) uber das Vorkommen des kongenitalen Megakolons (Hirschsprungsches Megakolon) bei der Katz. Mh Veterinermed 23:349-352
7. Yoder R (1968) Colectomy in cats. Vet Med Small Anim Clin 63:1049
8. Hultgren BD (1982) Ileocolonic aganglionosis in white progeny of overa spotted horses. J Am Vet Med Assoc 180:289-292
9. McCabe L, Griffin LD, Kinzer A, Chandler M, Beckwith JAB, McCabe ERB (1990) Overo lethal white foal syndrome: equine model of aganglionic megacolon (Hirschsprung disease). Am J Med Genet 36:336-340
10. Kyke TM, Laing EA, Hutchins DR (1990) Megacolon in two related Clydesdale foals. Aust Vet J 67:463-464
11. Yang GC, Croaker GD, Zhang AL, Manglick P, Cartmill T, Cass DT (1998) A dinucleotide mutation in the endothelin-β receptor gene is associated with lethal white foal syndrome (LSWF): a horse variant of Hirschsprung's disease (HSCR). Hum Mol Genet 7:1047-1052
12. Kernkampe HCH, Kanning HH (1995) Primary megacolon (Hirschsprung's disease) in swine. North Am Vet 36:642-643
13. Osborne JC, Davis JW, Farley H (1968) Hirschsprung's disease: a review and report of the entity in a Virginia swine herd. Vet Med Small Anim Clin 63:451-453
14. Bolande RP, Towler WF (1992) Ultrastructural and histochemical studies of murine megacolon. Am J Pathol 69:139-162
15. Bolande RP (1975) Animal model: aganglionic megacolon in piebald and spotted mutant mouse strains. Am J Pathol 79:189-192
16. Boley SJ (1975) The pathogenesis of Hirschsprung's disease - a continuing research. J Pediatr Surg 10:861-863
17. Webster WS (1973) Embryogenesis of enteric ganglia in normal mice and in mice that develop congenital aganglionic megacolon. J Embryol Exp Morphol 30:573-585
18. Webster W (1974) Aganglionic megacolon in Piebald-lethal mice. Arch Pathol 97:111-117
19. Bu'Lock A, Vaillant C, Dockray GJ (1984) Selective depletion of Substance P-immunoreactive neurons in the transition zone of the colon in Piebald lethal mice. Neurochem Int 6:55-61
20. Ikadai H, Suzufi K, Fujita H, Imamichi T (1981) Animal models of human disease. Hirschsprung's disease. Comp Pathol Bull 13:3-4
21. Horie H, Ikadai H, Iwasaki I, Ide G, Takahashi H (1980) Pathological studies on newly established congenital aganglionosis rat in Japan. J Jpn Soc Pediatr Surg 16:549-560
22. Nagahama M, Ozaki T, Hama K (1985) A study of the myenteric plexus of the congenital aganglionosis rat (spotting lethal). Anat Embryol 171:285-296
23. Nagahama M, Semba R, Tsuzuki M, Ozaki T (2001) Distribution of peripheral nerve terminals in the small and large intestine of congenital aganglionosis rats (Hirschsprung's disease rats). Pathol Int 51:145-157
24. Ward SM, Ordog T, Bayguinov JR, Horowitz B, Epperson A, Shen L, Westphal H, Sanders KM (1999) Development of interstitial cells of Cajal and pacemaking in mice lacking enteric nerves. Gastroenterology 117:584-594
25. Ward SM, Gershon MD, Keef K, Bayguinov YR, Nelson C, Sanders KM (2002) Interstitial cells of Cajal and electrical activity in ganglionic and aganglionic colons of mice. Am J Physiol Gastrointest Liver Physiol 283:G445-456
26. Horisawa M, Watanabe Y, Torihashi S (1998) Distribution of c-kit immunopositive cells in normal colon and in Hirschsprung's disease. J Pediatr Surg 33:1209-1214
27. Vanderwinden JM, Rumessen JJ, Liu H, Descamps D, De Laet MH, Vanderhaeghen JJ (1996) Interstitial cells of Cajal in human colon and in Hirschsprung's disease. Gastroenterology 111:901-910
28. Yamataka A, Kato Y, Tibboel D, Murata Y, Sueyoshi N, Nishiye H, Miyano T (1995) A lack of intestinal pacemaker (c-kit) in aganglionic bowel of patients with Hirschsprung's disease. J Pediatr Surg 30:441-444
29. Taniguchi K, Matsuura K, Matsuoka T, Nakatani H, Nakano T, Furuya Y, Sugimoto T, Kobayashi M, Araki K (2005) A morphological study of the pacemaker cells of the aganglionic intestine in Hirschsprung's disease utilizing ls/ ls model mice. Med Mol Morphol 38:123-129
30. Wood JD (1973) Electrical activity of the intestine of mice with hereditary megacolon and absence of enteric ganglion cells. Am J Dig Dis 18:477-488
31. Brann L, Wood JD (1976) Motility of the large intestine of piebald lethal mice. Am J Dig Dis 21:633-640
32. Brann L, Furtado D, Migliazzo CV, Baxendale J, Wood JD (1977) Secondary effects of aganglionosis in the piebald-lethal mouse model of Hirschsprung's disease. Lab Anim Sci 27:946-954
33. Nakai Y, Okasora T, Okamoto E (1994) Studies on cholinergic nerve function of the aganglionic colon in murine model. J Smooth Muscle Res 30:73-84
34. Cass DT (1993) The treatment and cause of aganglionosis. Vol 2: Studies in rodents. PhD Thesis, Department of Paediatric Surgery, Sydney University, Sydney, Australia
35. Alvarez WC (1949) A simple explanation for cariospasm and Hirschsprung's disease. Gastroenterology 13:422-429
36. Richardson J (1975) Pharmacologic studies of Hirschsprung's disease on a murine model. J Pediatr Surg 10:875
37. Chakder S, McHugh KM, Rattan S (1997) Inhibitory neurotransmission in lethal spotted mutant mice: a model for Hirschsprung's disease. Gastroenterology 112:1575-1585
38. Kubota M, Ito Y, Taguchi T, Ikeda K, Ikadai H (1989) Regional differences in the pattern of neurogenic responses in the aganglionic colon from congenitally aganglionic rats. J Pediatr Surg 24:911-919
39. Okasora T, Okamoto E, Toyosaka A, Nose K, Nakai Y, Tomimoto Y (1990) Study on function of aganglionic colon musculature of Hirschsprung's disease murine model. Nippon Heikatsukin Gakkai Zasshi 26:131-136
40. Wood JD, Brann LR, Vermillion DL (1986) Electrical and contractile behavior of large intestinal musculature of piebald mouse model for Hirschsprung's disease. Dig Dis Sci 31:638-650
41. Caniano DA, Grace GT, Sun CC, Ormsbee HS 3rd, Hardy FE, Hill JL (1986) Functional response to vasoactive intestinal peptide in piebald lethal mice. J Pediatr Surg 21:1128-1132
42. Bult H, Boeckxstaens GE, Pelckmans PA, Jordaens FH, Van Maercke YM, Herman AG (1990) Nitric oxide as an inhibitory non-adrenergic no-cholinergic neurotransmitter. Nature 345:346-347
43. Boeckxstaens GE, Pelckmans PA, Bult H, et al (1990) Nonadrenergic non-cholinergic relaxation mediated by nitric oxide in the canine ileocolonic junction. Eur J Pharmacol 190:239-246
44. Rolle Udo, Nemeth L, Puri P (2002) Nitrergic innervation of the normal gut and in motility disorders of childhood. J Pediatr Surg 37:551-567
45. Sanders KM, Ward SM (1992) Nitric oxide as a mediator of nonadrenergic noncholinergic neurotransmission. Am J Physiol 262:G379-G392
46. Stark ME, Bauer AJ, Starr MG, et al (1993) Nitric oxide mediated inhibitory input in human and canine jejunum. Gastroenterology 103:398-409
47. de Lorijn F, de Jonge WJ, Wedel T, Vanderwinden JM, Benninga MA, Boeckxstaens GE (2005) Interstitial cells of Cajal are involved in the afferent limb of the rectoanal inhibitory reflex. Gut 54:1107-1113
48. Rothman TP, Gershon MD (1982) Phenotypic expression in the developing murine enteric nervous system. J Neurosci 2:381-393
49. Rothman TP, Gershon MD (1984) Regionally defective colonization of the terminal bowel by the precursors of enteric neurons in lethal spotted mutant mice. Neuroscience 12:1293-1311
50. Jacob-Cohen RJ, Payette RF, Gershon MD, Rothman TP (1987) Inability of neural crest cells to colonise the presumptive aganglionic bowel of ls/ls mutant mice: requirements for a permissive microenvironment. J Comp Neurol 255:425-438
51. Payette RF, Tennyson VM, Pham TD, Mawe GM, Pomeranz HD, Rothman TP (1987) Origin and morphology of nerve fibers in the aganglionic colon of the lethal spotted (ls/ls) mutant mouse. J Comp Neurol 257:237-252
52. Payette RF, Tennyson VM, Pham TD, Mawe GM, Pomeranz HD, Rothman TP, Gershon MD (1988) Accumulation of components of basal laminae: association with the failure of neural crest cells to colonize the presumptive aganglionic bowel of ls/ls mutant mice. Dev Biol 125:341-360
53. Cass DT, Zhang AL, Morthorpe J (1992) Aganglionosis in rodents. J Pediatr Surg 27:351-356
54. Gariepy CE (2001) Intestinal motility disorders and development of the enteric nervous system. Pediatr Res 49:605-613
55. Newgreen D, Young HM (2002) Enteric nervous system: development and developmental disturbances - part 2. Pediatr Dev Pathol 5:329-349
56. Rothwell NV (1993) Understanding genetics - a molecular approach. Wiley-Liss, New York
57. Pavan WJ, Mac S, Cheng M, Tilghman SM (1995) Quantitative trait loci that modifies the severity of spotting in piebald mice. Genome Res 5:29-41
58. Metallinos DL, Oppenheimer AJ, Rinchik EM, Russell LB, Dietrich W, Tilghman SM (1994) Fine structure mapping and deletion analysis of the murine piebald locus. Genetics 136:217-223
59. Newgreen D, Young HM (2002) Enteric nervous system: development and developmental disturbances - part 1. Pediatr Dev Pathol 5:224-247
60. Taraviras S, Pachnis V (1999) Development of the mammalian enteric nervous system. Curr Opin Genet Dev 9:321-327
61. Takahashi M, Buma Y, Iwamoto T, Inaguma Y, Ikeda H, Hiai H (1988) Cloning and expression of the ret protooncogene encoding a tyrosine kinase with two potential transmembrane domains. Oncogene 3:571-578
62. Schuchardt A, D'Agayi V, Larsson-Blomberg L, Costanini F, Pachnis V (1994) Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature 367:380-383
63. Pachnis V, Mankoo B, Costantini F (1993) Expression of the c-ret proto-oncogene during mouse embryogenesis. Development 119:1005-1017
64. Durbec PL, Larsson-Blomberg LB, Schuchardt A, Costantini F, Pachnis V (1996) Common origin and developmental dependence on c-ret of subsets of enteric and sympathetic neuroblasts. Development 122:349-358
65. Taraviras S, Marcos-Gutierrez CV, Durbec P, Jani H, Grigoriou M, Sukumaran M, Wang LC, Hynes M, Raisman G, Pachnis V (1999) Signalling by the RET receptor tyrosine kinase and its role in the development of the mammalian enteric nervous system. Development 126:2785-2797
66. Martucciello G, Biocchi M, Dodero P, Lernone M, Cirillo MS, Puliti A, et al (1992) Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10. J Pediatr Surg 7:308-310
67. Lo L, Anderson DJ (1995) Postmigratory neural crest cells expressing c-RET display restricted developmental and proliferative capacities. Neuron 15:527-539
68. Angrist M, Kauffman EG, Slaugenhaupt SA, Matise TC, Puffenberger EG, Washington SS, et al (1993) A gene for Hirschsprung's disease (megacolon) in the pericentromeric region of chromosome 10. Nat Genet 4:351-356
69. Lyonnet S, Bolino A, Pelet A, Abel L, Nihoul-Fekete C, Briard M, et al (1993) A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet 4:346-350
70. Edery P, Lyonnet S, Mulligan L, Pelet A, Dow E, Holder, S, et al (1994) Mutations of the RET proto-oncogene in Hirschsprung disease. Nature 367:378-380
71. Romeo G, Rochetto P, Luo Y, Barone V, Seri M, Ceccherini I, et al (1994) Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung disease. Nature 367:377-378
72. Enomoto H, Araki T, Jackman A, Heuckeroth RO, Snider WD, Johnson EM Jr, et al (1998) GFR alpha1-deficient mice have deficits in the enteric nervous system and kidneys. Neuron 21:317-324
73. Moore MW, Klein RD, Farinas I, Sauer H, Armanini M, Philips H, et al (1996) Renal and neuronal abnormalities in mice lacking GDNF. Nature 382:76-79
74. Angrist M, Bolk S, Halushka M, Lapchak PA, Chakravarti A (1996) Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat Genet 14:341-344
75. Ivanchuk SM, Myers SM, Eng C, Mulligan LM (1996) De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease. Hum Mol Genet 5:2023-2026
76. Martucciello G, Thompson H, Mazzola C, Morando A, Bertagnon M, Negri F, et al (1998) GDNF deficit in Hirschsprung's disease. J Pediatr Surg 33:99-102
77. Rossi J, Luukko K, Poteryaev D, Laurikainen A, Sun YF, Laakso T, et al (1999) Retarded growth and deficits in the enteric and parasympathetic nervous system in mice lacking GFR alpha2, a functional neurturin receptor. Neuron 22:243-252
78. Heuckeroth RO, Enomoto H, Grider JR, Golden JP, Hanke JA, Jackman A, et al (1999) Gene targeting reveals a critical role for neurturin in the development and maintenance of enteric, sensory, and parasympathetic neurons. Neuron 22:253-263
79. Doray B, Salomon R, Amiel J, Pelet A, Touraine R, Billaud M, et al (1998) Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease. Hum Mol Genet 7:1449-1452
80. Sakurai T, Yanagisawa M, Masaki T (1992) Molecular characterization of endothelin receptors. Trends Pharmacol Sci 13:103-108
81. Kurihara Y, Kuihara H, Suzuki H, Kodama T, Maemura K, Nagai R, et al (1994) Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1. Nature 368:703-710
82. Yanagisawa H, Yanagisawa M, Kapur RP, Richardson JA, Williams SC, Clouthier DE, et al (1998) Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene. Development 125:825-836
83. Baynash AG, Hosoda K, Giaid A, Richardson J, Emoto N, Hammer R, et al (1994) Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 79:1277-1285
84. Hosoda K, Hammer R, Richardson J, Baynash A, Cheung J, Giaid A, et al (1994) Targeted and natural (Piebald-Lethal) mutations of endothelin-B receptor gene produces megacolon associated with spotted coat color in mice. Cell 79:1267-1276
85. Leibl MA, Ota T, Woodward MN, et al (1999) Expression of endothelin-3 by mesenchymal cells of embryonic mouse caecum. Gut 44:246-252
86. Rice J, Doggett B, Sweetser DA, et al (2000) Transgenic rescue of aganglionosis and piebaldism in lethal spotted mice. Dev Dyn 217:120-132
87. Ceccherini I, Zhang A, Matera I, Yang G, Devoto M, Romeo G, et al (1995) Interstitial deletion of the endothelin- B receptor gene in the spotting lethal (sl) rat. Hum Mol Genet 4:2089-2096
88. Gariepy CE, Cass DT, Yanagisawa M (1996) Null mutation of endothelin-B receptor in spotting lethal rats causes aganglionic megacolon and white coat color. Proc Natl Acad Sci U S A 93:867-872
89. Von Boyen GBT, Krammer HJ, Suss A, et al (2002) Abnormalities of the enteric nervous system in heterozygous endothelin B receptor deficient (spotting lethal) rats resembling intestinal neuronal dysplasia. Gut 51:414-419
90. Puffenberger EG, Hosoda K, Washington SS, Nako K, de-Wit D, Yanigisawa M, et al (1994) A missense mutation of endothelin-B receptor gene in multigenic Hirschsprung disease. Cell 79:1257-1266
91. Auricchio A, Cassari G, Staiano A, Ballabio A (1996) Endothelin- B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. Hum Mol Genet 5:351-354
92. Kasafuka T, Wang Y, Puri P (1996) Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung disease. Hum Mol Genet 5:347-349
93. Amiel J, Attie T, Jan D, Pelet A, Edery P, Bidaud C, et al (1996) Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum Mol Genet 5:355-357
94. Attie T, Till M, Pelet A, Amiel J, Edery P, Boutrand L, et al (1995) Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. Hum Mol Genet 4:2407-2409
95. Edery P, Attie T, Amiel J, Pelet A, Eng C, Hofstra RMW, et al (1996) Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet 12:442-444
96. Hofstra RMW, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg E-J, Stulp RP, et al (1996) A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet 12:445-447
97. Push C, Hustert E, Pfeifer D, Sudbeck P, Kist R, Roe B, et al (1998) The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor. Hum Genet 103:115-123
98. Kulbrodt K, Herbarth B, Sock E, Hermans-Borgmeyer I, Wegner M (1998) Sox10, a novel transcriptional modulator in glial cells. J Neurosci 18:237-250
99. Southard-Smith EM, Kos L, Pavan WJ (1998) Sox 10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat Genet 18:60-64
100. Kapur RP (1999) Early death of neural crest cells is responsible for total enteric aganglionosis in Sox10(Dom)/Sox10(Dom) mouse embryos. Pediatr Dev Pathol 2:559-569
101. Herbarth B, Pingault V, Bondurand N, Kuhlbrodt K, Hermans-Borgmeyer I, Puliti A, et al (1998) Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. Proc Natl Acad Sci U S A 95:5161-5165
102. Kuhlbordt K, Schmidt C, Sock E, Pingault V, Bondurand N, Goossens M, et al (1998) Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients. J Biol Chem 273:23033-23038
103. Pattyn A, Morin X, Cremer H, Goridis C, Brunet JF (1997) Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis. Development 124:4065-4075
104. Pattyn A, Morin X, Cremer H, Goridis C, Brunet JF (1999) The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives. Nature 399:366-370
105. Garcia-Barcelo M, Sham MH, Lui VCH, et al (2003) Association study of Phox2b as a candidate gene for Hirschsprung's disease. Gut 52:563-567
106. Goulding MD, Chalepakis G, Deutsch U, Erselius JR, Gruss P (1991) Pax-3, a novel murine DNA binding protein expressed during early neurogenesis. EMBO J 10:1135-1147
107. Lang D, Chen F, Milewski R, Li J, Lu MM, Epstein JA, et al (2000) Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret. J Clin Invest 106:963-971
108. Tassabehji M, Read AP, Newton VE, et al (1992) Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355:635-636
109. Shirasawa S, Yunker AM, Roth KA, Brown GA, Horning S, Korsmeyer SJ (1997) Enx (Hox11L1)-deficient mice develop myenteric neuronal hyperplasia and megacolon. Nat Med 3:646-650
110. Hatano M, Aoki T, Dezawa M, Yusa S, Iitsuka Y, Koseki H, et al (1997) A novel pathogenesis of megacolon in Ncx/ Hox11L1 deficient mice. J Clin Invest 100:795-801
111. Costa M, Fava M, Seri M, et al (2000) Evaluation of the HOX11L1 gene as a candidate for congenital disorders of intestinal innervation (letter). J Med Genet 37:E9
112. Yang JT, Liu CZ, Villavicencio EH, Yoon JW, Walterhouse D, Iannaccone PM (1997) Expression of human GLI in mice results in failure to thrive, early death, and patchy Hirschsprung-like gastrointestinal dilatation. Mol Med 3:826-835
113. Ramalho-Santos M, Melton DA, McMahon AP (2000) Hedgehog signals regulate multiple aspects of gastrointestinal development. Development 127:2763-2772
114. Gershon MD (1995) Neural crest development. Do developing enteric neurons need endothelins? Curr Biol 5:601-604
115. Nishijima E, Meijers JHC, Tibboel D, Luider TM, Petersvan der Sanden MMJ, van der Kamp AWM, et al (1990) Formation and malformation of the enteric nervous system in mice: an organ culture study. J Pediatr Surg 25:627-631
116. Kapur RP, Yost C, Palmiter RD (1993) Aggregation chimeras demonstrate that the primary defect responsible for aganglionic megacolon in lethal spotted mice is not neuroblast autonomous. Development 117:993-999
117. Coventry S, Yost C, Palmiter RD, Kapur RP (1994) Migration of ganglion cell precursors in the ileoceca of normal and lethal spotted embryos, a murine model for Hirschsprung disease. Lab Invest 71:82-93
118. Kapur RP, Yost C, Palmiter RD (1992) A transgenic model for studying development of the enteric nervous system in normal and aganglionic mice. Development 116:167-175
119. Puri P, Shinkai T (2004) Pathogenesis of Hirschsprung's disease and its variants: recent progress. Semin Pediatr Surg 13:18-24