Strain Name:

B6.Cg-Pax3Sp N/J

Stock Number:

000311

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Availability:

Cryopreserved - Ready for recovery

Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names B6-Pax3Sp.Cg-N/J    (Changed: 06-APR-12 )
Type Congenic; Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse
Background Strain C57BL/6J
Donor Strain mixed stock
GenerationN12p
Generation Definitions

Description
Mice homozygous for the splotch spontaneous mutation (Pax3Sp) die at E13 due to neural tube defects. Malformations of homozygous mutant embryos include rachischisis in the lumbosacral region and frequently in the region of the hindbrain. Heterozygous splotch mice show white spotting on the belly and occasionally on the back, feet, and tail. There are multiple alleles at this locus including splotch-delayed (Pax3Sp-d, Stock No. 000565), which is similar to splotch but displays caudal rachischisis only. This C57BL/6 congenic strain is also carrying the semidominant naked spontaneous mutation (N).

Control Information

  Control
   Wild-type from the colony
   000664 C57BL/6J
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Pax3Sp allele
002902   STOCK Pax3Sp Mlphln/J
View Strains carrying   Pax3Sp     (1 strain)

Strains carrying other alleles of Pax3
005549   B6;129-Pax3tm1(cre)Joe/J
000565   C57BL/6J-Pax3Sp-d/J
View Strains carrying other alleles of Pax3     (2 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Craniofacial-Deafness-Hand Syndrome; CDHS   (PAX3)
Rhabdomyosarcoma 2; RMS2   (PAX3)
Waardenburg Syndrome, Type 1; WS1   (PAX3)
Waardenburg Syndrome, Type 3; WS3   (PAX3)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

N/N

        Background Not Specified
  • mortality/aging
  • decreased survivor rate   (MGI Ref ID J:14908)
  • postnatal lethality
    • often die within 10 days of birth   (MGI Ref ID J:6403)
  • muscle phenotype
  • muscle degeneration   (MGI Ref ID J:30359)
  • growth/size/body phenotype
  • decreased body size
    • mice that survive are runted and require ground food pellets   (MGI Ref ID J:30359)
  • integument phenotype
  • abnormal hair cycle
    • mice never grow a complete coat   (MGI Ref ID J:6403)
    • there are cycles of regeneration and loss but new hair breaks prematurely   (MGI Ref ID J:6403)
  • abnormal hair texture   (MGI Ref ID J:14940)
    • brittle hair
      • hair breaks soon after formation   (MGI Ref ID J:14940)
  • absent vibrissae
    • not present at birth   (MGI Ref ID J:30359)
  • hairless
    • mice that survive develop a growth of fine hair on head, feet, and tail   (MGI Ref ID J:6403)
  • toenail hyperkeratosis   (MGI Ref ID J:30359)

N/N+

        Background Not Specified
  • integument phenotype
  • abnormal coat appearance
    • hair breakage and regeneration is not uniform so mice are mosaic for bare and haired patches   (MGI Ref ID J:14908)
    • abnormal hair texture   (MGI Ref ID J:14908)
      • brittle hair
        • hair begins to break at 10 to 14 days due to incomplete keratinization   (MGI Ref ID J:14908)
        • hair breakage and regeneration occurs in cycles   (MGI Ref ID J:14908)
  • abnormal epidermal layer morphology
    • dermal-epidermal recombination experiments indicated that the epidermis of this mutant is abnormal   (MGI Ref ID J:6403)
    • one or more weak places result in breakage or longitudinal fissures   (MGI Ref ID J:6403)
  • abnormal hair cycle   (MGI Ref ID J:6403)
  • abnormal hair shaft morphology   (MGI Ref ID J:14908)
    • hair shafts have a deficiency in or entirely lack a cuticle   (MGI Ref ID J:30359)
    • abnormal hair cuticle
      • may be deficient or absent   (MGI Ref ID J:30359)
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

N related

Dermatology Research
Skin and Hair Texture Defects

Pax3Sp related
Color and White Spotting Defects

Developmental Biology Research
Neural Crest Defects
Neural Tube Defects

Neurobiology Research
Neural Tube Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol N
Allele Name naked
Allele Type Spontaneous
Gene Symbol and Name N, naked
Chromosome 15
General Note Arose as a spontaneous mutation in a stock at the Latvian University of Riga (J:14939).
 
Allele Symbol Pax3Sp
Allele Name splotch
Allele Type Spontaneous
Common Name(s) Sp;
Strain of OriginC57BL
Gene Symbol and Name Pax3, paired box 3
Chromosome 1
Gene Common Name(s) CDHS; HUP2; Pax-3; Sp; WS1; WS3; splotch;
Molecular Note An A to T transversion at the invariant 3' AG splice acceptor of intron 3 was identified in this allele. This mutation abrogates the normal splicing of intron 3, resulting in the generation of four aberrantly spliced mRNA transcripts. Two of these Pax-3 transcripts make use of cryptic 3' splice sites within the downstream exon, generating small deletions which disrupt the reading frame of the transcripts. A third aberrant splicing event results in the deletion of exon 4, while a fourth retains intron 3. These aberrantly spliced mRNA transcripts are not expected to result in functional Pax3 proteins. [MGI Ref ID J:3731]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

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]

Epstein DJ; Vekemans M; Gros P. 1991. Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell 67(4):767-74. [PubMed: 1682057]  [MGI Ref ID J:2944]

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]

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]

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]

Mansouri A; Stoykova A; Gruss P. 1994. Pax genes in development. J Cell Sci Suppl 18:35-42. [PubMed: 7883790]  [MGI Ref ID J:24468]

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]

Walther C; Guenet JL; Simon D; Deutsch U; Jostes B; Goulding MD; Plachov D; Balling R; Gruss P. 1991. Pax: a murine multigene family of paired box-containing genes. Genomics 11(2):424-34. [PubMed: 1685142]  [MGI Ref ID J:11577]

N related

David LT. 1932. The external expression and comparative dermal histology of hereditary hairlessness in mammals Z Zellforsch Mikrosk Anat 14:616-719.  [MGI Ref ID J:14908]

Fraser AS; Nay T. 1955. Growth of the mouse coat. IV. Comparison of naked and normal mice Aust J Biol Sci 8:420-7.  [MGI Ref ID J:103318]

Fraser FC. 1946. The expression and interaction of hereditary factors producing hypotrichosis in the mouse: histology and experimental results. Can J Res 24:10-25.  [MGI Ref ID J:14940]

Hogan ME; King LE Jr; Sundberg JP. 1995. Defects of pelage hairs in 20 mouse mutations. J Invest Dermatol 104(5 Suppl):31S-32S. [PubMed: 7738386]  [MGI Ref ID J:25255]

Lebedinsky NG; Dauvart A. 1927. Atrichosis und ihre Vererbung bei der albinotischen Hausmaus Biol Zentralbl 47:748-52.  [MGI Ref ID J:14939]

Raphael KA; Marshall RC; Pennycuik PR. 1984. Protein and amino acid composition of hair from mice carrying the naked (N) gene. Genet Res 44(1):29-38. [PubMed: 6489753]  [MGI Ref ID J:7614]

Raphael KA; Pennycuik PR. 1980. The site of action of the naked locus (N) in the mouse as determined by dermal-epidermal recombinations. J Embryol Exp Morphol 57:143-53. [PubMed: 7000960]  [MGI Ref ID J:6403]

Sundberg JP (ed.). 1994. Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. In: Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. CRC Press, Boca Raton.  [MGI Ref ID J:30359]

Tenenhouse HS; Gold RJ; Kachra Z. 1974. Biochemical marker in dominantly inherited ectodermal malformation. Nature 251(5474):431-2. [PubMed: 4479485]  [MGI Ref ID J:5491]

Pax3Sp related

Asher JH Jr; Friedman TB. 1990. Mouse and hamster mutants as models for Waardenburg syndromes in humans. J Med Genet 27(10):618-26. [PubMed: 2246770]  [MGI Ref ID J:200892]

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]

Barlow AJ; Dixon J; Dixon M; Trainor PA. 2013. Tcof1 acts as a modifier of Pax3 during enteric nervous system development and in the pathogenesis of colonic aganglionosis. Hum Mol Genet 22(6):1206-17. [PubMed: 23283078]  [MGI Ref ID J:193269]

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]

Bonnin MA; Laclef C; Blaise R; Eloy-Trinquet S; Relaix F; Maire P; Duprez D. 2005. Six1 is not involved in limb tendon development, but is expressed in limb connective tissue under Shh regulation. Mech Dev 122(4):573-85. [PubMed: 15804569]  [MGI Ref ID J:98304]

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]

Cabrera RM; Finnell RH; Zhu H; Shaw GM; Wlodarczyk BJ. 2012. Transcriptional analyses of two mouse models of spina bifida. Birth Defects Res A Clin Mol Teratol 94(10):782-9. [PubMed: 23024056]  [MGI Ref ID J:190946]

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]

Deol MS. 1966. Influence of the neural tube on the differentiation of the inner ear in the mammalian embryo. Nature 209(5019):219-20. [PubMed: 5912439]  [MGI Ref ID J:114748]

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]

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]

Griffith AV; Cardenas K; Carter C; Gordon J; Iberg A; Engleka K; Epstein JA; Manley NR; Richie ER. 2009. Increased thymus- and decreased parathyroid-fated organ domains in Splotch mutant embryos. Dev Biol 327(1):216-27. [PubMed: 19135046]  [MGI Ref ID J:145693]

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]

Helmbacher F; Dessaud E; Arber S; deLapeyriere O; Henderson CE; Klein R; Maina F. 2003. Met signaling is required for recruitment of motor neurons to PEA3-positive motor pools. Neuron 39(5):767-77. [PubMed: 12948444]  [MGI Ref ID J:85300]

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]

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]

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]

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]

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]

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]

Nadeau JH. 2001. Modifier genes in mice and humans. Nat Rev Genet 2(3):165-74. [PubMed: 11256068]  [MGI Ref ID J:88013]

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]

Nakazaki H; Shen YW; Yun B; Reddy A; Khanna V; Mania-Farnell BM; Ichi S; Mclone DG Tomita T; Mayanil SK. 2009. Transcriptional regulation by Pax3 and TGFbeta2 signaling: a potential gene regulatory network in neural crest development Int J Biol 53:69-70.  [MGI Ref ID J:142494]

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]

Nelms BL; Pfaltzgraff ER; Labosky PA. 2011. Functional interaction between Foxd3 and Pax3 in cardiac neural crest development. Genesis 49(1):10-23. [PubMed: 21254333]  [MGI Ref ID J:167976]

Niro C; Demignon J; Vincent S; Liu Y; Giordani J; Sgarioto N; Favier M; Guillet-Deniau I; Blais A; Maire P. 2010. Six1 and Six4 gene expression is necessary to activate the fast-type muscle gene program in the mouse primary myotome. Dev Biol 338(2):168-82. [PubMed: 19962975]  [MGI Ref ID J:156719]

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]

Russell WL. 1947. Splotch, a new mutation in the house mouse, Mus musculus. Genetics 32:102.  [MGI Ref ID J:12957]

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]

Seo KW. 2007. Dmrt2 and Pax3 double-knockout mice show severe defects in embryonic myogenesis. Comp Med 57(5):460-8. [PubMed: 17974128]  [MGI Ref ID J:142168]

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]

Snell GD; Dickie MM; Smith P; Kelton DE. 1954. Linkage of loop-tail, leaden, splotch and fuzzy in the mouse Heredity 8:271-273.  [MGI Ref ID J:120]

Steel KP; Smith RJ. 1992. Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1. Nat Genet 2(1):75-9. [PubMed: 1303254]  [MGI Ref ID J:2179]

Stottmann RW; Berrong M; Matta K; Choi M; Klingensmith J. 2006. The BMP antagonist Noggin promotes cranial and spinal neurulation by distinct mechanisms. Dev Biol 295(2):647-63. [PubMed: 16712836]  [MGI Ref ID J:110617]

Tajbakhsh S; Rocancourt D; Cossu G; Buckingham M. 1997. Redefining the genetic hierarchies controlling skeletal myogenesis: Pax-3 and Myf-5 act upstream of MyoD. Cell 89(1):127-38. [PubMed: 9094721]  [MGI Ref ID J:39308]

Takahashi Y. 1996. Organization of the spina bifida neural tube in Splotch (Pax-3 defective) mouse embryos. Dev Growth Differ 38(1):23-31.  [MGI Ref ID J:33667]

Tremblay P; Dietrich S; Mericskay M; Schubert FR; Li Z; Paulin D. 1998. A crucial role for Pax3 in the development of the hypaxial musculature and the long-range migration of muscle precursors. Dev Biol 203(1):49-61. [PubMed: 9806772]  [MGI Ref ID J:50788]

Van Raamsdonk CD; Fitch KR; Fuchs H; de Angelis MH; Barsh GS. 2004. Effects of G-protein mutations on skin color. Nat Genet 36(9):961-8. [PubMed: 15322542]  [MGI Ref ID J:92947]

Wei K; Chen J; Akrami K; Sekhon R; Chen F. 2007. Generation of mice deficient for Lbx2, a gene expressed in the urogenital system, nervous system, and Pax3 dependent tissues. Genesis 45(6):361-8. [PubMed: 17492753]  [MGI Ref ID J:121890]

Wilson DB. 1974. Proliferation in the neural tube of the splotch (Sp) mutant mouse. J Comp Neurol 154(3):249-55. [PubMed: 4826095]  [MGI Ref ID J:5443]

Wilson DB; Finta LA. 1979. Gap junctional vesicles in the neural tube of the splotch (Sp) mutant mouse. Teratology 19(3):337-40. [PubMed: 473084]  [MGI Ref ID J:6190]

Wlodarczyk BJ; Tang LS; Triplett A; Aleman F; Finnell RH. 2006. Spontaneous neural tube defects in splotch mice supplemented with selected micronutrients. Toxicol Appl Pharmacol 213(1):55-63. [PubMed: 16226775]  [MGI Ref ID J:108794]

Wurst W; Auerbach AB; Joyner AL. 1994. Multiple developmental defects in Engrailed-1 mutant mice: an early mid-hindbrain deletion and patterning defects in forelimbs and sternum. Development 120(7):2065-75. [PubMed: 7925010]  [MGI Ref ID J:19212]

Yokoyama S; Ito Y; Ueno-Kudoh H; Shimizu H; Uchibe K; Albini S; Mitsuoka K; Miyaki S; Kiso M; Nagai A; Hikata T; Osada T; Fukuda N; Yamashita S; Harada D; Mezzano V; Kasai M; Puri PL; Hayashizaki Y; Okado H; Hashimoto M; Asahara H. 2009. A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58. Dev Cell 17(6):836-48. [PubMed: 20059953]  [MGI Ref ID J:156017]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3175.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.
    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice
    Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $4127.50
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.
    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice
    Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Control Information

  Control
   Wild-type from the colony
   000664 C57BL/6J
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.


See Terms of Use tab for General Terms and Conditions


The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.
Ordering Information
JAX® Mice
Surgical and Preconditioning Services
JAX® Services
Customer Services and Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form

Terms of Use

Terms of Use


General Terms and Conditions


Contact information

General inquiries regarding Terms of Use

Contracts Administration

phone:207-288-6470

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.


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