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Strain Name:

C57BL/6J-Pax3Sp-d/J

Stock Number:

000565

Availability:

Repository- Live

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General Terms and Conditions

Genes & Alleles   Pax3;   Pax3Sp-d;

Product Information

Strain Details

Type JAX® GEMM® Strain - Coisogenic
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Mutant Strain
Type JAX® GEMM® Strain - Spontaneous Mutation
Mating SystemHeterozygote x C57BL/6J (000664)         (Female x Male)
Mating SystemC57BL/6J (000664) x Heterozygote         (Female x Male)
Specieslaboratory mouse
Generation(N1p)N11B6JN44 (07-DEC-07)

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

Strain 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.

Related Disease (OMIM) Terms

Waardenburg Syndrome, Type I; WS1
NOTWaardenburg Syndrome, Type III; WS3
Mammalian Phenotype Terms assigned by genotype

Pax3Sp-d/Pax3+

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

Pax3Sp-d/Pax3Sp-d

        C57BL/6J
  • lethality-prenatal/perinatal
  • perinatal lethality (MGI Ref ID J:238)
    • survive to birth
  • nervous system phenotype
  • abnormal dorsal root ganglion morphology (MGI Ref ID J:70476)
    • in 15 and 16 day old embryos, spinal gangalia of the lumbosacral region were reduced in size, residual or missing
    • this phenotype is less severe than seen in Pax3Sp mutants
    • disorganized dorsal root ganglion (MGI Ref ID J:70476)
      • dorsal roots are more disorganized and appear less frequently than in wild type
  • abnormal neural tube morphology/development (MGI Ref ID J:70476)
    • 88.8% exhibit a neural tube defect
    • spina bifida (MGI Ref ID J:70476)
      • seen in some mutants
  • exencephaly (MGI Ref ID J:70476)
    • mutants sometimes show exencephaly and spina bifida or exencephaly and a curly tail
  • skeleton phenotype
  • abnormal vertebral column (MGI Ref ID J:238)
    • caudal rachischisis in all mutants
  • limbs/digits/tail phenotype
  • curly tail (MGI Ref ID J:70476)
    • seen in some mutants

Gene & Allele Details

Allele Symbol Pax3Sp-d
Allele Name delayed splotch
Common Name(s) Spd;
Strain of OriginC57BL/6J
Gene Symbol and Name Pax3, paired box gene 3
Chromosome 1
Gene Common Name(s) CDHS; HUP2; MGC120381; MGC120382; MGC120383; MGC120384; MGC134778; Pax-3; Sp; WS1; splotch;
General Note Pax3Sp-d, delayed splotch, semidominant. This mutation arose spontaneously in the C57BL/6J strain. Heterozygotes have a white belly spot. Homozygotes are similar to Pax3Sp homozygotes but have caudal rachischisis only, and survive to birth. Heterozygous Pax3Sp-d/Pax3Sp mice resemble Pax3Sp-d homozygotes (J:238).Delayed splotch appears generally to be less severe than splotch. Pax3Sp-d embryos suffer the same abnormalities with regard toNCAM and the proteoglycans as Pax3Sp, but in less severe form (J:2360, J:1964). The aorticopulmonary septum, absent in Pax3Sp-d embryos, is present in Pax3Sp-d; this difference alone might be sufficient to account for survival of Pax3Sp-d homozygotes to birth, while Pax3Sp homozygous embryos die in utero (J:833).Pax3Sp-d is a point mutation within the paired domain of Pax3 (J:13595). This impairs DNA binding of this domain and also, surprisingly, of the homeodomain, not directly affected in the mutant gene (J:25084).

Delayed splotch appears generally to be less severe than splotch

Molecular Note 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]

Control Information

  Allele   Control
 Pax3Sp-d  Wild-type from the colony
 
  Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Pax3
000311   B6-Pax3Sp.Cg-N/J
005549   B6;129-Pax3tm1(cre)Joe/J
002469   C57BL/6J-Pax3Sp/J
002902   STOCK Pax3Sp Mlphln/J
View Strains carrying other alleles of Pax3     (4 strains)

Animal Health Reports

Room Number           A1

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

Mouse/Human Gene Homologs
Waardenburg syndrome, type I

Neurobiology Research
Neural Tube Defects

References

Additional References

Price and Supply Information

Strain Name: C57BL/6J-Pax3Sp-d/J
Stock Number: 000565

Price Details

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Supply Details

Standard SupplyRepository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement.
Supply Notes Usually shipped between four and eight weeks of age.
This strain is included in the Neural Tube Defect Resource collection.
Genomic DNA is available for this strain from the Mouse DNA Resource.
Request Form Strain from the Neural Tube Defect Resource. First time use requires submission of a Request Form, please inquire.
LicensingSee General Terms and Conditions below  
Control InformationView Control Information in Strain Details.

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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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