Strain Name    : JU.B-Pax3Sp/Mmmh

Stock Number : 000172-MU

Gene Information

(provided by MGI)
Allele Symbol: Pax3Sp
Name: splotch
Chromosome: 1
Alteration at locus: Spontaneous Mutation
Gene Symbol: Pax3
Name: paired box 3
Chromosome: 1
Alteration at locus: Spontaneous Mutation
Genetic Alterations:
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. (Mouse Genome Database (MGD), Mouse Genome Informatics Web Site, The Jackson Laboratory, Bar Harbor, Maine. World Wide Web (URL: http://www.informatics.jax.org). Jan, 2004.)

Genotype Determination:

ES Cell Line: Not applicable

Phenotype

Homozygous state is embryonic lethal. Heterozygous mice have a white spot/stripe on the forehead and a large white spot on the belly.

Mammalian Phenotype Terms:
Allelic Composition: Pax3Sp/Pax3Sp (Genetic Background: BR.B-Pax3Sp )

  • mortality/aging
  • nervous system
  • embryogenesis
Allelic Composition: Pax3Sp/Pax3Sp (Genetic Background: C57BL-Pax3Sp )

Allelic Composition: Pax3Sp/Pax3Sp (Genetic Background: involves: 129S2/SvPas * C57BL * C57BL/6J * FVB )

Allelic Composition: Pax3Sp/Pax3Sp (Genetic Background: involves: C57BL )

Allelic Composition: Pax3Sp/Pax3+ (Genetic Background: C57BL-Pax3Sp )

Allelic Composition: Pax3Sp/Pax3+ (Genetic Background: involves: C3HeB * C57BL * C57BL/6J * SWV )

Allelic Composition: Pax3Sp/Pax3+ (Genetic Background: involves: C57BL * C57BL/6J * CBA )

Allelic Composition: Pax3tm1Buck/Pax3Sp (Genetic Background: involves: 129P2/OlaHsd * C57BL )

Allelic Composition: Pax3tm3.1(Pax7)Buck/Pax3Sp (Genetic Background: involves: 129S2/SvPas )

Strain of Origin: C57BL/6J

Strain genetic background: JU/CtLm (MMRRC:000136)

Strain Development: The spontaneous mutation occurred in a C57BL/6 colony at the Jackson Laboratory. Starting with C57BL/6J-Pax3Sp/J, donor backcrossed to JU/CtLm more than 10 generations.

Suggested Control Mice:

  • Modifier genes
  • Pigmentation
  • Neural crest and neural tube defects
  • Waardenburg syndrome, type 1

Donor: Dr. ML Lamoreux, Texas A&M University

Primary Reference:

  • Russell WL, Splotch, a new mutation in the house mouse, Mus musculus., Genetics 1947;32():102.
  • Epstein DJ, Vogan KJ, Trasler DG, Gros P. 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. 1993 Jan 15;90(2):532-6.(Medline PMID: 8421686)
  • Martin LJ, Machado AF, Loza MA, Mao GE, Lee GS, Hovland DN Jr, Cantor RM, Collins MD. 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. 2003 Apr;67(4):231-9. (Medline PMID: 12854658)

Colony and Husbandry Information

Feed 9% fat diet.

Colony Surveillance Program and Current Health Reports

Mice recovered from a cryo-archive will have health surveillance performed on recipient females. Health reports will be provided prior to shipment. If you require additional health status information, please email mmrrc@missouri.edu.

Coat color: Black with white spotting and prominent head spot.

Other:


MMRRC Breeding System: Sib mating or backcross

Breeding Scheme(s):

  • Wildtype female x Heterozygous male
  • Heterozygous female x Wildtype male
  • Heterozygous female x Heterozygous male

Generation: N10+

Overall Breeding Performance: Good

Viability and Fertility:FemaleMaleComments
Homozygotes are viable: No No
Homozygotes are fertile: No No
Heterozygotes are fertile: Yes Yes
 
Age Reproductive Decline: 52 weeks 52 weeks

Average litter size: 8

Recommended wean age: 4 weeks

Order Request Information

Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.

Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.
Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.
Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
MMRRC Item # Description
Distribution
Fee/unit (US $)
Units Notes
000172-MU-RESUSLitter recovered from cryo-archive
$2,022.00 / $4,109.00
Non-Profit / For-Profit
Litter Recovered litter1; additional fees for any special requests.
000172-MU-SPERMCryo-preserved spermatozoa
$437.00 / $817.00
Non-Profit / For-Profit
Aliquot Approximate quantity.2
000172-MU-EMBRYOCryo-preserved embryos
$1,038.00 / $2,621.00
Non-Profit / For-Profit
Aliquot Approximate quantity3: 20-40 embryos / aliquot

1 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

2 An aliquot is one straw or vial with sufficient sperm to recover at least one litter of mice, as per provided protocols, when performed at the MMRRC facility. The MMRRC makes no guarantee concerning the success of these procedures when performed outside the MMRRC facilities.

3 An aliquot contains a sufficient number of embryos (in one or more vials and based on the transfer success rate of the MMRRC facility) to transfer to at least two recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section above). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.



To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.