Wa5 is a novel ENU-induced antimorphic allele of the epidermal growth factor receptor

Mammalian Genome

Volumn 15, Issue 7, 2004, Pages 525-536

  Lee, Daekee ^a   Cross, Sally H ^b   Strunk, Karen E ^a   Morgan, Joanne E ^b   Bailey, Candice L ^a   Jackson, Ian J ^b   Threadgill, David W ^a  

^a UNIVERSITY OF NORTH CAROLINA   (United States)

^b WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR; EPIDERMAL GROWTH FACTOR RECEPTOR KINASE; ETHYLNITROSOUREA; PROTEIN KINASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CARCINOGENESIS; CONTROLLED STUDY; EMBRYO; ENZYME ACTIVITY; FEMALE; GENE FUNCTION; GENETIC ASSOCIATION; IN VIVO STUDY; INDUCED MUTATION; MALE; MISSENSE MUTATION; MOUSE; NONHUMAN; NULL ALLELE; PLACENTA DEVELOPMENT; PROTEIN DOMAIN; PROTEIN MODIFICATION; PROTEIN MOTIF; PROTEIN PHOSPHORYLATION;

ANIMALIA; RODENTIA;

EID: 2942753999     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00335-004-2384-2     Document Type: Article

References (55)

1. Apostolakis EM, Garai J, Lohmann JE, Clark JH, O'Malley BW (2000) Epidermal growth factor activates reproductive behavior independent of ovarian steroids in female rodents. Mol Endocrino. 14, 1086-1098
2. Carpenter G, Wahl MI (1990) The epidermal growth factor family. In: Handbook of Experimental Pharmacology, Peptide Growth Factors and Their Receptors I, Sporn MB, Roberts AB, eds. (Berlin: Springer- Verlag) pp 69-171
3. Chen B, Bronson RT, Klaman LD, Hampton TG, Wang JF, et al. (2000a) Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis. Nat Genet 24, 296-299
4. Chen WS, Lazar CS, Poenie M, Tsien RY, Gill GN, et al. (1987) Requirement for intrinsic protein tyrosine kinase in the immediate and late actions of the EGF receptor. Nature 328, 820-823
5. Chen Y, Yee D, Dains K, Chatterjee A, Cavalcoli J, et al. (2000b) Genotype-based screen for ENU-induced mutations in mouse embryonic stem cells. Nat Genet 24, 314-317
6. Cheng K, Koland JG (1998) Nucleotide-binding properties of kinase-deficient epidermal-growth-factor-receptor mutants. Biochem J 330, 353-359
7. Coker KJ, Staros JV, Guyer CA (1994) A kinse-negative epidermal growth factor receptor that retains the capacity to stimulate DNA synthesis. Proc Natl Acad Aci USA 91, 6967-6971
8. Coussens L, Yang-Feng TL, Liao Y-C, Chen E, Gray A, et al. (1985) Tyrosine kinase receptor with extensive homology to EGF receptor shares chromosomal locatin with neu oncogene. Science 230, 1132-1139
9. Donaldson RW, Cohen S (1992) Epidermal growth factor stimulates tyrosine phosphorylation in the neonatal mouse: association of a M(r) 55,000 substrate with the receptor. Proc Natl Acad Sci USA 89, 8477-8481
10. Egger B, Buchler MW, Lakshmanan J, Moore P, Eysselein VE (2000) Mice harboring a defective epidermal growth factor receptor (waved-2) have an increased susceptibility to acute dextran sulfate-induced colitis. Scand J Gastroenterol 35, 1181-1187
11. Fitch KR, McGowan KA, van Raamsdonk CD, Fuchs H, Lee D, et al. (2003) Genetics of dark skin in mice. Genes Dev 17, 214-228
12. Fowler KJ, Walker F, Alexander W, Hibbs ML, Nice EC, et al. (1995) A mutation in the epidermal growth factor receptor in waved-2 mice has a profound effect on the receptor biochemistry that results in impaired lactation. Proc Nat Acad Sci USA 92, 1465-1469
13. Gayraud B, Keene DR, Sakai LY, Ramirez F (2000) New insights into the assembly of extracellular microfibrils from the analysis of the fibrillin 1 mutation in the Tight skin mouse. J Cell Biol 150, 667-680
14. Gould KA, Dietrich WF, Borenstein N, Lander ES, Dove WF (1996) Mom1 is a semi dominant modifier of intestinal adenoma size and multiplicity in Min/+ mice. Genetics 144, 1769-1776
15. Gullick WJ (1998) Type I growth factor receptors: current status and future work. Biochem Soc Symp 63, 193-198
16. Guy PM, Platko JV, Cantley LC, Cerione RA, Carraway KL (1994) Insect cell-expressed p180erbB3 possesses an impaired tyrosine kinase activity. Proc Nat Acad Sci USA 91, 8132-8136
17. Hallsson JH, Favor J, Hodgkinson C, Glaser T, Lamoreux ML, et al. (2000) Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus. Genetics 155, 291-300
18. Hanks SK, Quinn AM, Hunter T (1988) The protein kinase family: conserved features and deduced phylogeny of the catalytic domains. Science 241, 42-52
19. Helmrath MA, Erwin CR, Warner MD (1997) A defective EGF-receptor in waved-2 mice attenuates intestinal adaptation. J Surg Res 69, 76-80
20. Huse M, Kuriyan J (2002) The conformational plasticity of protein kinases. Cell 109, 275-282
21. Jeffers M, Schmidt L, Nakaigawa N, Webb CP, Weirich G, et al. (1997) Activating mutations for the met tyrosine kinase receptor in human cancer. Proc Natl Acad Sci USA 94, 11445-11450
22. Johnson LN, Noble ME, Owen DJ (1996) Active and inactive protein kinases: structural basis for regulation. Cell 85, 149-158
23. Katso RM, Russell RB, Ganesan TS (1999) Functional analysis of H-Ryk, an atypical member of the receptor tyrosine kinase family. Mol Cell Biol 19, 6427-6440
24. Keegan BP, Sheflin LG, Spaulding SW (2000) The internalization and endosomal trafficking of the EGF receptor in response to EGF is delayed in the waved-2 mouse liver. Biochem Biophys Res Commun 267, 881-886
25. King DP, VItaterna MH, Chang AM, Dove WF, Pinto LH, et al. (1997) The mouse Clock mutation behaves as an antimorph and maps within the W19H deletion, distal of Kit. Genetics 146, 1049-1060
26. Knighton DR, Zheng JH, Ten Eyck LF, Xuong NH, Taylor SS, Sowadski JM (1991) Structure of a peptide inhibitor bound to the catalytic subunit of cyclic adenosine monophosphate-dependent protein kinase. Science 253, 414-420
27. Kraus MH, Issing W, Miki T, Poescu NC, Aaronson SA (1989) Isolation and characterization of ERBB3, a third member of the ERBB/epidermal growth factor receptor family: evidence for overexpression in a subset of human mammary tumors. Proc Nat Acad Sci USA 86, 9193-9197
28. Kroiher M, Miller MA, Steele RE (2001) Deceiving appearances: signaling by "dead" and "fractured" receptor protein-tyrosine kinases. Bioessays 23, 69-76
29. Longley BJ Jr, Metcalfe DD, Tharp M, Wang X, Tyrrell L, et al. (1999) Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc Natl Acad Sci USA 96, 1609-1614
30. Luetteke NC, Qiu TH, Peiffer RL, Oliver P, Smithies O, et al. (1993) TGF alpha deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice. Cell 73, 263-278
31. Luetteke NC, Phillips HK, Qiu TH, Copeland NG, Earp HS, et al. (1994) The mouse waved-2 phenotype results from a point mutation in the EGF receptor tyrosine kinase. Genes. Dev 8, 399-413
32. Luetteke NC, Qiu TH, Fenton SE, Troyer KL, Riedel RF, et al. (1999) Targeted inactivation of the EGF and amphiregulin genes reveals distinct roles for EGF receptor ligands in mouse mammary gland development. Development 126, 2739-2750
33. MacMurray A, Shin HS (1988) The antimorphic nature of the Tc allele at the mouse T locus.. Genetics 120, 545-550
34. Mann GB, Fowler KJ, Gabriel A, Nice EC, Williams RL, et al. (1993) Mice with a null mutation of the TGF alpha gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation. Cell 73, 249-261
35. Marker PC, Seung K, Bland AE, Russell LB, Kingsley DM (1997) Spectrum of Bmp5 mutations from germline mutagenesis experiments in mice. Genetics 145, 435-443
36. Miettinen PJ, Berger JE, Meneses J, Phung Y, Pedersen RA, et al. (1995) Epithelial immaturity and multiorgan failure in mice lacking epidermal growth factor receptor. Nature 376, 337-341
37. Miettinen PJ, Chin JR, Shum L, Slavkin HC, Shuler CF, et al. (1999) Epidermal growth factor receptor function is necessary for normal craniofacial development and palate closure. Nat Genet 22, 69-73
38. Muller HJ (1932) Further studies on the nature and causes of gene mutations. In Sixth International Congress of Genetics, Brooklyn Botanic Gardens, Ithaca, NY, pp 213-255
39. Munroe RJ, Bergstrom RA, Zheng QY, Libby B, Smith R, et al. (2000) Mouse mutants from chemically mutagenized embryonic stem cells. Nat Genet 24, 318-321
40. Oike Y, Hata A, Mamiya T, Kaname T, Noda Y, et al. (1999) Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism. Hum Mol Genet 8, 387-396
41. Plowman GD, Whitney GS, Neubauer MG, Green JM, McDonald VL, et al. (1990) Molecular cloning and expression of an additional epidermal growth factor receptor-related gene. Proc Nat Acad Sci USA 87, 4905-4909
42. Plowman GD, Culouscou J-M, Whitney GS, Green JM, Carlton GW, et al. (1993) Ligand-specific activation of HER4/p180erbB4, a fourth member of the epidermal growth factor receptor family. Proc Nat Acad Sci USA 90, 1746-1750
43. Qu CK, Yu WM, Azzarelli B, Feng GS (1999) Genetic evidence that Shp-2 tyrosine phosphatase is a signal enhancer of the epidermal growth factor receptor in mammals. Proc Nat Acad Sci USA 96, 8528-8533
44. Rajaraman S, Davis WS, Mahakali-Zama A, Evans HK, Russell LB, et al. (2002) An allelic series of mutations in the kit ligand gene of mice. I. Identification of point mutations in seven ethylnitrosourea-induced Kit-1(Steel) alleles. Genetics 162, 331-340
45. Reiter JL, Threadgill DW, Eley GD, Strunk KE, Danielsen AJ, et al. (2001) Comparative genomic sequence analysis and isolation of human and mouse alternative EGFR transcripts encoding truncated receptor isoforms. Genomics 71, 1-20
46. Roberts RB, Min L, Washington MK, Olsen SJ, Settle SH, et al. (2001) Importance of epidermal growth factor receptor signaling in establishment of adenomas and maintenance of carcinomas during intestinal tumorigenesis. Proc Nat Acad Sci USA 99, 1521-1526
47. Russell LB, Montgomery CS (1982) Supermutagenicity of ethylnitrosourea in the mouse spot test: comparison with methylnitrosourea and ethylnitrosourethane.. Mutat Res 92, 193-204
48. Shu HK, Pelley RJ, Kung HJ (1990) Tissue-specific transformation by epidermal growth factor receptor: a single point mutation within the ATP-binding pocket of the erbB product increases its intrinsic kinase activity and activates its sarcomagenic potential. Proc Natl Acad Sci USA 87, 9103-9107
49. Sibilia M, Wagner EF (1995) Strain-dependent epithelial defects in mice lacking the EGF receptor. Science 269, 234-238
50. Strunk KE, Amann V, Threadgill DW (2004) Phenotypic variation resulting from a deficiency of epidermal growth factor receptor in mice is caused by extensive genetic heterogeneity that can be genetically and molecularly partitioned. Genetics (in press)
51. Thaung C, West K, Clark BJ, McKie L, Morgan JE, et al. (2002) Novel ENU-induced eye mutations in the mouse: models for human eye disease. Hum Mol Genet 11, 755-767
52. Threadgill DW, Dlugosz AA, Hansen LA, Tennenbaum T, Lichti U, et al. (1995) Targeted disruption of mouse EGF receptor: effect of genetic background on mutant phenotype. Science 269, 230-234
53. Wang DZM, Hammond VE, Abud HE, Bertoncello I, McAvoy JW, et al. (1997) Mutations in Sos1 dominantly enhances a weak allele of the EGFR, demonstrating a requirement for Sos1 in EGFR signaling and development. Genes Dev 11, 309-320
54. Wang ZQ, Chen JK, Wang SW, Moeckel G, Harris RC (2003) Importance of functional EGF receptors in recovery from acute nephrotoxic injury. J Am Soc Nephrol 14, 3147-3154
55. Webster MK, D'Avis PY, Robertson SC, Donoghue DJ (1996) Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II. Mol Cell Biol 16, 4081-4087