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

Type Coisogenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N18 Generation Definitions

Appearance
black with white belly spot
Related Genotype: a/a Pax3^Sp-d/+

Description
Mice homozygous for the splotch-delayed spontaneous mutation (Pax3^Sp-d) have a phenotype that is generally less severe than mice homozygous for the splotch mutation (Pax3^Sp, Stock No. 002469). Splotch-delayed homozygous embryos survive to birth, compared to splotch mutant embryos that die at E13 due to neural tube defects. Homozygous splotch-delayed mutant embryos display caudal rachischisis only. Heterozygous splotch-delayed have a white belly spot. Delayed splotch is a point mutation within the paired domain of Pax3. This impairs DNA binding of this domain and also, suprisingly, of the homeodomain, not directly affected in the mutant gene.

Control Information

	Control
	Wild-type from the colony
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Pax3

000311	B6.Cg-Pax3Sp N/J
005549	B6;129-Pax3tm1(cre)Joe/J
002902	STOCK Pax3Sp Mlphln/J

View Strains carrying other alleles of Pax3     (3 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Waardenburg Syndrome, Type 1; WS1

- No similarity to the expected human disease phenotype was found. One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of these genes, but the phenotype did not resemble the disease.

Waardenburg Syndrome, Type 3; WS3

- 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)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Pax3^Sp-d/Pax3⁺

        C57BL/6J

• pigmentation phenotype
• belly spot   (MGI Ref ID J:238)
• integument phenotype
• belly spot   (MGI Ref ID J:238)

Pax3^Sp-d/Pax3^Sp-d

        C57BL/6J

• mortality/aging
• complete perinatal lethality
  • survive to birth   (MGI Ref ID J:238)
• nervous system phenotype
• abnormal dorsal root ganglion morphology
  • in 15 and 16 day old embryos, spinal gangalia of the lumbosacral region were reduced in size, residual or missing   (MGI Ref ID J:70476)
  • this phenotype is less severe than seen in Pax3^Sp mutants   (MGI Ref ID J:70476)
• • disorganized dorsal root ganglion
    • dorsal roots are more disorganized and appear less frequently than in wild-type   (MGI Ref ID J:70476)
• abnormal neural tube morphology/development
  • 88.8% exhibit a neural tube defect   (MGI Ref ID J:70476)
• • spina bifida
    • seen in some mutants   (MGI Ref ID J:70476)
• exencephaly
  • mutants sometimes show exencephaly and spina bifida or exencephaly and a curly tail   (MGI Ref ID J:70476)
• skeleton phenotype
• abnormal vertebral column morphology
  • caudal rachischisis in all mutants   (MGI Ref ID J:238)
• limbs/digits/tail phenotype
• curly tail
  • seen in some mutants   (MGI Ref ID J:70476)
• embryogenesis phenotype
• abnormal neural tube morphology/development
  • 88.8% exhibit a neural tube defect   (MGI Ref ID J:70476)
• • spina bifida
    • seen in some mutants   (MGI Ref ID J:70476)

View Research Applications

Research Applications

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

Pax3^Sp-d related

Dermatology Research
Color and White Spotting Defects

Developmental Biology Research
Neural Crest Defects
Neural Tube Defects

Mouse/Human Gene Homologs
Waardenburg syndrome, type I

Neurobiology Research
Neural Tube Defects

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Pax3Sp-d
Allele Name		delayed splotch
Allele Type		Spontaneous
Common Name(s)		Spd;
Strain of Origin		C57BL/6J
Gene Symbol and Name		Pax3, paired box gene 3
Chromosome		1
Gene Common Name(s)		CDHS; HUP2; Pax-3; Sp; WS1; WS3; splotch;
Molecular Note		This mutation comprises a transversion mutation altering nucleotide 421 from a G to a C results in a glycine to arginine substitution at position 42 of the protein. This position corresponds to the ninth amino acid of the paired domain. Northern blot analysis on RNA derived from homozygous mice demonstrated that mRNA levels were approximately 5 fold lower than wild-type. [MGI Ref ID J:13595]

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]

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]

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]

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]

Pax3^Sp-d related

Asher JH Jr; Harrison RW; Morell R; Carey ML; Friedman TB. 1996. Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation. Genomics 34(3):285-98. [PubMed: 8786127]  [MGI Ref ID J:33807]

Blitz E; Viukov S; Sharir A; Shwartz Y; Galloway JL; Pryce BA; Johnson RL; Tabin CJ; Schweitzer R; Zelzer E. 2009. Bone ridge patterning during musculoskeletal assembly is mediated through SCX regulation of Bmp4 at the tendon-skeleton junction. Dev Cell 17(6):861-73. [PubMed: 20059955]  [MGI Ref ID J:156015]

Dickie MM. 1964. New Splotch alleles in the mouse J Hered 55:97-101. [PubMed: 14170406]  [MGI Ref ID J:238]

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]

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]

Kahn J; Shwartz Y; Blitz E; Krief S; Sharir A; Breitel DA; Rattenbach R; Relaix F; Maire P; Rountree RB; Kingsley DM; Zelzer E. 2009. Muscle contraction is necessary to maintain joint progenitor cell fate. Dev Cell 16(5):734-43. [PubMed: 19460349]  [MGI Ref ID J:148688]

Keller-Peck CR; Mullen RJ. 1997. Altered cell proliferation in the spinal cord of mouse neural tube mutants curly tail and Pax3 splotch-delayed. Brain Res Dev Brain Res 102(2):177-88. [PubMed: 9352100]  [MGI Ref ID J:43203]

Keller-Peck CR; Mullen RJ. 1996. Patterns of neuronal differentiation in neural tube mutant mice: curly tail and Pax3 splotch-delayed. J Comp Neurol 368(4):516-26. [PubMed: 8744440]  [MGI Ref ID J:32806]

L'honore A; Ouimette JF; Lavertu-Jolin M; Drouin J. 2010. Pitx2 defines alternate pathways acting through MyoD during limb and somitic myogenesis. Development 137(22):3847-56. [PubMed: 20978076]  [MGI Ref ID J:167064]

McLone DG; Dias MS; Goossens W; Knepper PA. 1997. Pathological changes in exposed neural tissue of fetal delayed splotch (Spd) mice. Childs Nerv Syst 13(1):1-7. [PubMed: 9083694]  [MGI Ref ID J:39175]

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. 1991. N-CAM alterations in splotch neural tube defect mouse embryos. Development 113(3):1049-58. [PubMed: 1821845]  [MGI Ref ID J:2360]

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]

Motley ST; Effmann EL. 1992. Homozygous splotch-delayed mouse embryos septate the truncus arteriosus Teratology 45:468.  [MGI Ref ID J:833]

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]

Pazin DE; Gamer LW; Cox KA; Rosen V. 2012. Molecular profiling of synovial joints: Use of microarray analysis to identify factors that direct the development of the knee and elbow. Dev Dyn 241(11):1816-26. [PubMed: 22972626]  [MGI Ref ID J:187969]

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]

Shwartz Y; Farkas Z; Stern T; Aszodi A; Zelzer E. 2012. Muscle contraction controls skeletal morphogenesis through regulation of chondrocyte convergent extension. Dev Biol 370(1):154-63. [PubMed: 22884393]  [MGI Ref ID J:188141]

Trasler DG; Morriss-Kay G. 1991. Immunohistochemical localization of chondroitin and heparan sulfate proteoglycans in pre-spina bifida splotch mouse embryos. Teratology 44(5):571-9. [PubMed: 1771598]  [MGI Ref ID J:1964]

Underhill DA; Vogan KJ; Gros P. 1995. Analysis of the mouse Splotch-delayed mutation indicates that the Pax-3 paired domain can influence homeodomain DNA-binding activity. Proc Natl Acad Sci U S A 92(9):3692-6. [PubMed: 7731966]  [MGI Ref ID J:25084]

Vogan KJ; Epstein DJ; Trasler DG; Gros P. 1993. The splotch-delayed (Spd) mouse mutant carries a point mutation within the paired box of the Pax-3 gene. Genomics 17(2):364-9. [PubMed: 8406487]  [MGI Ref ID J:13595]

Wang G; Scott SA. 2007. Onset of ETS expression is not accelerated by premature exposure to signals from limb mesenchyme. Dev Dyn 236(8):2109-17. [PubMed: 17654714]  [MGI Ref ID J:123289]

Yang XM; Vogan K; Gros P; Park M. 1996. Expression of the met receptor tyrosine kinase in muscle progenitor cells in somites and limbs is absent in Splotch mice. Development 122(7):2163-71. [PubMed: 8681797]  [MGI Ref ID J:34184]

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

General Supply Notes

• View the complete collection of spontaneous mutants in the Mouse Mutant Resource.
• Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Wild-type from the colony
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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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.

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