Strain Name:

C57BL/6J-Pax3Sp-d/J

Stock Number:

000565

Order this mouse

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

Type Coisogenic; Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Specieslaboratory mouse
GenerationN18
Generation Definitions

Appearance
black with white belly spot
Related Genotype: a/a Pax3Sp-d/+

Description
Mice homozygous for the splotch-delayed spontaneous mutation (Pax3Sp-d) have a phenotype that is generally less severe than mice homozygous for the splotch mutation (Pax3Sp, 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

Pax3Sp-d/Pax3+

        C57BL/6J
  • pigmentation phenotype
  • belly spot   (MGI Ref ID J:238)
  • integument phenotype
  • belly spot   (MGI Ref ID J:238)

Pax3Sp-d/Pax3Sp-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 Pax3Sp 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)
    • caudal rachischisis
      • caudal rachischisis in all mutants   (MGI Ref ID J:238)
    • 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)
  • 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)
    • caudal rachischisis
      • caudal rachischisis in all mutants   (MGI Ref ID J:238)
    • 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:

Pax3Sp-d related

Dermatology Research
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 Pax3Sp-d
Allele Name delayed splotch
Allele Type Spontaneous
Common Name(s) Spd;
Strain of OriginC57BL/6J
Gene Symbol and Name Pax3, paired box 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

Pax3Sp-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]

Lours-Calet C; Alvares LE; El-Hanfy AS; Gandesha S; Walters EH; Sobreira DR; Wotton KR; Jorge EC; Lawson JA; Kelsey Lewis A; Tada M; Sharpe C; Kardon G; Dietrich S. 2014. Evolutionarily conserved morphogenetic movements at the vertebrate head-trunk interface coordinate the transport and assembly of hypopharyngeal structures. Dev Biol 390(2):231-46. [PubMed: 24662046]  [MGI Ref ID J:212419]

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]

Rolfe RA; Nowlan NC; Kenny EM; Cormican P; Morris DW; Prendergast PJ; Kelly D; Murphy P. 2014. Identification of mechanosensitive genes during skeletal development: alteration of genes associated with cytoskeletal rearrangement and cell signalling pathways. BMC Genomics 15:48. [PubMed: 24443808]  [MGI Ref ID J:209494]

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


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

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3300.00
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 10 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* $4290.00
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 10 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.

General Supply Notes

  • View the complete collection of spontaneous mutants in the Mouse Mutant Resource.

Control Information

  Control
   Wild-type from the colony
 
  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.


(6.8)