Strain Name:
JU.B6J-Pax3Sp/Mmmh
Stock Number:
000172-MU
Citation ID:
RRID:MMRRC_000172-MU
Major Collection:

Strain Information

Pax3Sp
Name: paired box 3; splotch
Synonyms: Sp
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 1
Alteration at locus: Spontaneous Mutation
Pax3
Name: paired box 3
Synonyms: Splchl2, Pax-3
Type: Gene
Species: Mouse
Chromosome: 1
Alteration at locus: Spontaneous Mutation
NCBI: 18505
HGNC: HGNC:8617
Homologene: 22494
Genetic Alterations
An A-to-T transversion at the invariant 3' AG splice acceptor of Pax3 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 Pax3 transcripts make use of cryptic 3' splice sites within the downstream exon, generating small deletions that 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.
Genotype Determination
Phenotype

Homozygous: 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 )

MeSH Terms
  • Alternative Splicing
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cloning, Molecular
  • Introns/genetics
  • Mice
  • Mice, Mutant Strains/genetics
  • Molecular Sequence Data
  • Mutation
  • Polymerase Chain Reaction
  • RNA, Messenger/biosynthesis
  • RNA, Messenger/genetics
  • Sequence Analysis, DNA
  • Abnormalities, Drug-Induced/etiology
  • Abnormalities, Drug-Induced/genetics
  • Age Factors
  • Arsenites/toxicity
  • DNA-Binding Proteins/metabolism
  • Dose-Response Relationship, Drug
  • Embryonic and Fetal Development/drug effects
  • Embryonic and Fetal Development/genetics
  • Female
  • Fetal Resorption/chemically induced
  • Fetal Resorption/genetics
  • Genotype
  • Male
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Neural Tube Defects/chemically induced
  • Neural Tube Defects/genetics
  • PAX3 Transcription Factor
  • Paired Box Transcription Factors
  • Pregnancy
  • Sex Factors
  • Sodium Compounds/toxicity
  • Spinal Dysraphism/chemically induced
  • Spinal Dysraphism/genetics
  • Transcription Factors
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 (MMRRC:136) more than 10 generations.
Suggested Control Mice

Wild-type littermates or JU/CtLm (MMRRC:136)

MMRRC Genetic QC Summary
The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact mmrrc@missouri.edu. Older strains may not have this information.
  • Modifier genes
  • Pigmentation
  • Neural crest and neural tube defects
  • Waardenburg syndrome, type 1
Donor

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.
MMRRC Breeding System
Sib-mating or backcross
Breeding Scheme(s)
  • Wild-type female x Heterozygous male
  • Heterozygous female x Wild-type male
  • Heterozygous female x Heterozygous male
Generation
N10+ (JU/CtLm (MMRRC:136)
Overall Breeding Performance
Good
Viability and Fertility: Female Male Comments
Homozygotes are viable: No No
Homozygotes are fertile: No No
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: 12 months 12 months
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.

Cryopreserved material may be available upon request, please inquire to mmrrc@missouri.edu for more information.

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 $)
*Shipping & Handling not included*
Units Notes
000172-MU-EMBRYO Cryo-preserved embryos $1,038.00 / $2,621.00
Non-Profit / For-Profit
Aliquot Approximate quantity2 : 20-40 embryos / aliquot
000172-MU-SPERM Cryo-preserved spermatozoa $437.00 / $817.00
Non-Profit / For-Profit
Aliquot Approximate quantity3
000172-MU-RESUS Litter recovered from cryo-archive $2,016.00 / $4,103.00
Non-Profit / For-Profit
Litter Recovered litter4; additional fees for any special requests.

1 The distribution fee covers the expense of rederiving mice from a live mouse; 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 contains a sufficient number of embryos (in one or more vials or straws and based on the transfer success rate of the MMRRC facility) to transfer into one to three recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

3 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.

4 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.

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.