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Strain Name:

STOCK Pax3Sp Mlphln/J

Stock Number:

002902

Availability:

Repository-Cryopreserved


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Additional References

 

Auerbach R. 1954. Analysis of the developmental effects of a lethal mutation in the house mouse. J Exp Zool 127:305-329.  [MGI Ref ID J:13016]

Bajard L; Relaix F; Lagha M; Rocancourt D; Daubas P; Buckingham ME. 2006. A novel genetic hierarchy functions during hypaxial myogenesis: Pax3 directly activates Myf5 in muscle progenitor cells in the limb. Genes Dev 20(17):2450-64. [PubMed: 16951257]  [MGI Ref ID J:112275]

Bajolle F; Zaffran S; Kelly RG; Hadchouel J; Bonnet D; Brown NA; Buckingham ME. 2006. Rotation of the myocardial wall of the outflow tract is implicated in the normal positioning of the great arteries. Circ Res 98(3):421-8. [PubMed: 16397144]  [MGI Ref ID J:118891]

Bennett GD; An J; Craig JC; Gefrides LA; Calvin JA; Finnell RH. 1998. Neurulation abnormalities secondary to altered gene expression in neural tube defect susceptible splotch embryos Teratology 57(1):17-29. [PubMed: 9516748]  [MGI Ref ID J:46128]

Bober E; Franz T; Arnold HH; Gruss P; Tremblay P. 1994. Pax-3 is required for the development of limb muscles: a possible role for the migration of dermomyotomal muscle progenitor cells. Development 120(3):603-12. [PubMed: 8162858]  [MGI Ref ID J:17224]

Borycki AG; Li J; Jin F; Emerson CP; Epstein JA. 1999. Pax3 functions in cell survival and in pax7 regulation. Development 126(8):1665-74. [PubMed: 10079229]  [MGI Ref ID J:55248]

Brown CB; Feiner L; Lu MM; Li J; Ma X; Webber AL; Jia L; Raper JA; Epstein JA. 2001. PlexinA2 and semaphorin signaling during cardiac neural crest development. Development 128(16):3071-80. [PubMed: 11688557]  [MGI Ref ID J:71241]

Chalepakis G; Goulding M; Read A; Strachan T; Gruss P. 1994. Molecular basis of splotch and Waardenburg Pax-3 mutations. Proc Natl Acad Sci U S A 91(9):3685-9. [PubMed: 7909605]  [MGI Ref ID J:18260]

Daston G; Lamar E; Olivier M; Goulding M. 1996. Pax-3 is necessary for migration but not differentiation of limb muscle precursors in the mouse. Development 122(3):1017-27. [PubMed: 8631247]  [MGI Ref ID J:32016]

Davidson CE; Li Q; Churchill GA; Osborne LR; McDermid HE. 2007. Modifier locus for exencephaly in Cecr2 mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans. Physiol Genomics 31(2):244-51. [PubMed: 17623803]  [MGI Ref ID J:127218]

Dempsey EE; Trasler DG. 1983. Early morphological abnormalities in splotch mouse embryos and predisposition to gene- and retinoic acid-induced neural tube defects. Teratology 28(3):461-72. [PubMed: 6665745]  [MGI Ref ID J:114747]

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Epstein DJ; Vogan KJ; Trasler DG; Gros P. 1993. A mutation within intron 3 of the Pax-3 gene produces aberrantly spliced mRNA transcripts in the splotch (Sp) mouse mutant. Proc Natl Acad Sci U S A 90(2):532-6. [PubMed: 8421686]  [MGI Ref ID J:3731]

Epstein JA; Li J; Lang D; Chen F; Brown CB; Jin F; Lu MM; Thomas M; Liu E; Wessels A; Lo CW. 2000. Migration of cardiac neural crest cells in Splotch embryos. Development 127(9):1869-78. [PubMed: 10751175]  [MGI Ref ID J:61431]

Epstein JA; Shapiro DN; Cheng J; Lam PY; Maas RL. 1996. Pax3 modulates expression of the c-Met receptor during limb muscle development. Proc Natl Acad Sci U S A 93(9):4213-8. [PubMed: 8633043]  [MGI Ref ID J:32900]

Ernest S; Christensen B; Gilfix BM; Mamer OA; Hosack A; Rodier M; Colmenares C; McGrath J; Bale A; Balling R; Sankoff D; Rosenblatt DS; Nadeau JH. 2002. Genetic and molecular control of folate-homocysteine metabolism in mutant mice. Mamm Genome 13(5):259-67. [PubMed: 12016514]  [MGI Ref ID J:76559]

Fisher RA. 1953. The linkage of polydactyly with leaden in the house mouse. Heredity 7:91-95.  [MGI Ref ID J:12979]

Goulding M; Lumsden A; Paquette AJ. 1994. Regulation of Pax-3 expression in the dermomyotome and its role in muscle development. Development 120(4):957-71. [PubMed: 7600971]  [MGI Ref ID J:18227]

Goulding M; Sterrer S; Fleming J; Balling R; Nadeau J; Moore KJ; Brown SD; Steel KP; Gruss P. 1993. Analysis of the Pax-3 gene in the mouse mutant splotch. Genomics 17(2):355-63. [PubMed: 8406486]  [MGI Ref ID J:13559]

Grifone R; Demignon J; Giordani J; Niro C; Souil E; Bertin F; Laclef C; Xu PX; Maire P. 2007. Eya1 and Eya2 proteins are required for hypaxial somitic myogenesis in the mouse embryo. Dev Biol 302(2):602-16. [PubMed: 17098221]  [MGI Ref ID J:119948]

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Hill AL; Phelan SA; Loeken MR. 1998. Reduced expression of pax-3 is associated with overexpression of cdc46 in the mouse embryo. Dev Genes Evol 208(3):128-34. [PubMed: 9601985]  [MGI Ref ID J:48291]

Hornyak TJ; Hayes DJ; Chiu L; Ziff EB. 2001. Transcription factors in melanocyte development: distinct roles for Pax-3 and Mitf. Mech Dev 101(1-2):47-59. [PubMed: 11231058]  [MGI Ref ID J:68168]

Houzelstein D; Cheraud Y; Auda-Boucher G; Fontaine-Perus J; Robert B. 2000. The expression of the homeobox gene Msx1 reveals two populations of dermal progenitor cells originating from the somites. Development 127(10):2155-64. [PubMed: 10769239]  [MGI Ref ID J:61521]

Hume AN; Collinson LM; Hopkins CR; Strom M; Barral DC; Bossi G; Griffiths GM; Seabra MC. 2002. The leaden gene product is required with Rab27a to recruit myosin Va to melanosomes in melanocytes. Traffic 3(3):193-202. [PubMed: 11886590]  [MGI Ref ID J:105323]

Hume AN; Tarafder AK; Ramalho JS; Sviderskaya EV; Seabra MC. 2006. A coiled-coil domain of melanophilin is essential for Myosin Va recruitment and melanosome transport in melanocytes. Mol Biol Cell 17(11):4720-35. [PubMed: 16914517]  [MGI Ref ID J:117973]

Kapron-Bras CM; Trasler DG. 1984. Gene-teratogen interaction and its morphological basis in retinoic acid-induced mouse spina bifida. Teratology 30(1):143-50. [PubMed: 6385329]  [MGI Ref ID J:114749]

Kapron-Bras CM; Trasler DG. 1985. Reduction in the frequency of neural tube defects in splotch mice by retinoic acid. Teratology 32(1):87-92. [PubMed: 3898457]  [MGI Ref ID J:8010]

Karolyi IJ; Dootz GA; Halsey K; Beyer L; Probst FJ; Johnson KR; Parlow AF; Raphael Y; Dolan DF; Camper SA. 2007. Dietary thyroid hormone replacement ameliorates hearing deficits in hypothyroid mice. Mamm Genome 18(8):596-608. [PubMed: 17899304]  [MGI Ref ID J:125708]

Kassar-Duchossoy L; Giacone E; Gayraud-Morel B; Jory A; Gomes D; Tajbakhsh S. 2005. Pax3/Pax7 mark a novel population of primitive myogenic cells during development. Genes Dev 19(12):1426-31. [PubMed: 15964993]  [MGI Ref ID J:98918]

Kochilas LK; Li J; Jin F; Buck CA; Epstein JA. 1999. p57Kip2 expression is enhanced during mid-cardiac murine development and is restricted to trabecular myocardium. Pediatr Res 45(5 Pt 1):635-42. [PubMed: 10231856]  [MGI Ref ID J:96055]

Konyukhov BV; Mironova OV. 1979. Interaction of the mutant genes splotch and fidget in mice. Sov Genet 15:407-411.  [MGI Ref ID J:11996]

Kwang SJ; Brugger SM; Lazik A; Merrill AE; Wu LY; Liu YH; Ishii M; Sangiorgi FO; Rauchman M; Sucov HM; Maas RL; Maxson RE Jr. 2002. Msx2 is an immediate downstream effector of Pax3 in the development of the murine cardiac neural crest. Development 129(2):527-38. [PubMed: 11807043]  [MGI Ref ID J:73781]

Lakkis MM; Golden JA; O'Shea KS; Epstein JA. 1999. Neurofibromin deficiency in mice causes exencephaly and is a modifier for Splotch neural tube defects. Dev Biol 212(1):80-92. [PubMed: 10419687]  [MGI Ref ID J:56680]

Li D; Pickell L; Liu Y; Rozen R. 2006. Impact of methylenetetrahydrofolate reductase deficiency and low dietary folate on the development of neural tube defects in splotch mice. Birth Defects Res A Clin Mol Teratol 76(1):55-9. [PubMed: 16397891]  [MGI Ref ID J:112763]

Li J; Liu KC; Jin F; Lu MM; Epstein JA. 1999. Transgenic rescue of congenital heart disease and spina bifida in Splotch mice. Development 126(11):2495-503. [PubMed: 10226008]  [MGI Ref ID J:52760]

Machado AF; Zimmerman EF; Hovland DN Jr; Weiss R; Collins MD. 2001. Diabetic embryopathy in C57BL/6J mice. Altered fetal sex ratio and impact of the splotch allele. Diabetes 50(5):1193-9. [PubMed: 11334426]  [MGI Ref ID J:69040]

Markert CL; Silvers WK. 1956. The Effects of Genotype and Cell Environment on Melanoblast Differentiation in the House Mouse. Genetics 41(3):429-50. [PubMed: 17247639]  [MGI Ref ID J:12970]

Martin LJ; Machado AF; Loza MA; Mao GE; Lee GS; Hovland DN Jr; Cantor RM; Collins MD. 2003. Effect of arsenite, maternal age, and embryonic sex on spina bifida, exencephaly, and resorption rates in the splotch mouse. Birth Defects Res Part A Clin Mol Teratol 67(4):231-9. [PubMed: 12854658]  [MGI Ref ID J:85062]

Matesic LE; Yip R; Reuss AE; Swing DA; O'Sullivan TN; Fletcher CF; Copeland NG; Jenkins NA. 2001. Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice. Proc Natl Acad Sci U S A 98(18):10238-43. [PubMed: 11504925]  [MGI Ref ID J:71302]

Mennerich D; Schafer K; Braun T. 1998. Pax-3 is necessary but not sufficient for lbx1 expression in myogenic precursor cells of the limb. Mech Dev 73(2):147-58. [PubMed: 9622616]  [MGI Ref ID J:48130]

Moase CE; Trasler DG. 1990. Delayed neural crest cell emigration from Sp and Spd mouse neural tube explants. Teratology 42(2):171-82. [PubMed: 2218944]  [MGI Ref ID J:114750]

Moase CE; Trasler DG. 1987. Retinoic acid-induced selective mortality of splotch-delayed mouse neural tube defect mutants. Teratology 36(3):335-43. [PubMed: 3424222]  [MGI Ref ID J:70477]

Moase CE; Trasler DG. 1989. Spinal ganglia reduction in the splotch-delayed mouse neural tube defect mutant. Teratology 40(1):67-75. [PubMed: 2763211]  [MGI Ref ID J:70476]

Moore KJ; Swing DA; Copeland NG; Jenkins NA. 1990. Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations [published erratum appears in Genetics 1990 Sep;126(1):285] Genetics 125(2):421-30. [PubMed: 2379821]  [MGI Ref ID J:29467]

Moore KJ; Swing DA; Rinchik EM; Mucenski ML; Buchberg AM; Copeland NG; Jenkins NA. 1988. The murine dilute suppressor gene dsu suppresses the coat-color phenotype of three pigment mutations that alter melanocyte morphology, d, ash and ln. Genetics 119(4):933-41. [PubMed: 3410303]  [MGI Ref ID J:9309]

Morris GL; O'Shea KS. 1983. Anomalies of neuroepithelial cell associations in the Splotch mutant embryo. Brain Res 285(3):408-10. [PubMed: 6627032]  [MGI Ref ID J:70478]

Murray JM. 1933. "Leaden", a recent color mutation in the house mouse. Am Naturalist 67:278-283.  [MGI Ref ID J:17162]

Nakazaki H; Reddy AC; Mania-Farnell BL; Shen YW; Ichi S; McCabe C; George D; McLone DG; Tomita T; Mayanil CS. 2008. Key basic helix-loop-helix transcription factor genes Hes1 and Ngn2 are regulated by Pax3 during mouse embryonic development. Dev Biol 316(2):510-23. [PubMed: 18308300]  [MGI Ref ID J:135651]

Neale SA; Trasler DG. 1994. Early sialylation on N-CAM in splotch neural tube defect mouse embryos. Teratology 50(2):118-24. [PubMed: 7801299]  [MGI Ref ID J:19959]

Oda K; Yamazaki K; Miura H; Shibasaki H; Kikuchi T. 1992. Dying back type axonal degeneration of sensory nerve terminals in muscle spindles of the gracile axonal dystrophy (GAD) mutant mouse. Neuropathol Appl Neurobiol 18(3):265-81. [PubMed: 1630580]  [MGI Ref ID J:1724]

Pani L; Horal M; Loeken MR. 2002. Rescue of neural tube defects in Pax-3-deficient embryos by p53 loss of function: implications for Pax-3- dependent development and tumorigenesis. Genes Dev 16(6):676-80. [PubMed: 11914272]  [MGI Ref ID J:75569]

Phelan SA; Ito M; Loeken MR. 1997. Neural tube defects in embryos of diabetic mice: role of the Pax-3 gene and apoptosis. Diabetes 46(7):1189-97. [PubMed: 9200655]  [MGI Ref ID J:41232]

Relaix F; Polimeni M; Rocancourt D; Ponzetto C; Schafer BW; Buckingham M. 2003. The transcriptional activator PAX3-FKHR rescues the defects of Pax3 mutant mice but induces a myogenic gain-of-function phenotype with ligand-independent activation of Met signaling in vivo. Genes Dev 17(23):2950-65. [PubMed: 14665670]  [MGI Ref ID J:86911]

Relaix F; Rocancourt D; Mansouri A; Buckingham M. 2004. Divergent functions of murine Pax3 and Pax7 in limb muscle development. Genes Dev 18(9):1088-105. [PubMed: 15132998]  [MGI Ref ID J:90568]

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Schubert FR; Tremblay P; Mansouri A; Faisst AM; Kammandel B; Lumsden A; Gruss P; Dietrich S. 2001. Early mesodermal phenotypes in splotch suggest a role for Pax3 in the formation of epithelial somites. Dev Dyn 222(3):506-21. [PubMed: 11747084]  [MGI Ref ID J:72525]

Serbedzija GN; McMahon AP. 1997. Analysis of neural crest cell migration in Splotch mice using a neural crest-specific LacZ reporter. Dev Biol 185(2):139-47. [PubMed: 9187079]  [MGI Ref ID J:40428]

Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York.  [MGI Ref ID J:78801]

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