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Allele Symbol: Pax3Sp Name: paired box gene 3 / splotch 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:
assigned by genotype
The following phenotype information may relate to one or more alleles on a genetic background differing from this MMRRC strain.
Strain Type: Congenic Spontaneous Mutant
Founder genetic background: 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.
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)
Coat color: Black with white spotting and prominent head spot.
Other:
MMRRC Breeding System: Sib mating or backcross
Breeding Scheme(s):
Generation: N10+
Overall Breeding Performance: Good
| Viability and Fertility | Female | Male |
|---|---|---|
| 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
Feed 9% fat diet.
Mice recovered from a cryo-archive will have health surveillance performed on the
resuscitated animals.
Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.
* 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.)
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Distribution Fee/unit (US $) |
Units | Notes | ||||||
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Litter | Recovered litter1; additional fees for any special requests. | ||||||
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Aliquot | Approximate quantity.2 | ||||||
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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 breedable 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 sufficient material (volume and concentration) for at least two IVF or several artificial inseminations (based on our procedures). The MMRRC makes no guarantee concerning 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 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 (207) 288-6009 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to information.
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Last Modified: June 23, 2010