Strain Name: |
STOCK Pax3Sp Mlphln/J |
|---|---|
Stock Number: |
002902 |
Availability: | Repository-Cryopreserved |
General Terms and Conditions |
| Former Name |
STOCK Pax3Sp ln (Changed: 15-DEC-04
) |
| Genes & Alleles | Mlph; Mlphln; Pax3; Pax3Sp; |
Product Information
Strain Details
Type JAX® GEMM® Strain - Mutant Stock Additional information on JAX® GEMM® Strains. Species laboratory mouse Generation F3+p
Gene & Allele Details
| Allele Symbol | Mlphln | ||
|---|---|---|---|
| Allele Name | leaden | ||
| Common Name(s) | leaden; ln; | ||
| Strain of Origin | C57BR | ||
| Gene Symbol and Name | Mlph, melanophilin | ||
| Chromosome | 1 | ||
| Gene Common Name(s) | 2210418F23Rik; 5031433I09Rik; AW228792; D1Wsu84e; DNA segment, Chr 1, Wayne State University 84, expressed; MGC2771; MGC59733; SLAC2-A; Slac-2a; expressed sequence AW228792; l(1)-3Rk; l1Rk3; leaden; lethal, Chr 1, Roderick 3; ln; | ||
| General Note | In its effect on coat color the leaden mouse is indistinguishable from the dilute mouse. Like dilute, this allele causes clumping of melanin granules into larger masses, but no change in color of the pigment. The clumping is due to the shape of the melanocytes, which have fewer and thinner dendritic processes than wild-type melanocytes (J:12970). These melanocytes are more easily dislodged from fixed sites in the hair bulb and incorporated into the developing hair, resulting in large clumps of pigmentin the hair shaft (J:5095). By use of chimeras and dermal-epidermal recombination grafts, the site of action was shown to be in the melanocytes (J:8167). | ||
| Molecular Note | This allele has a C to T transition at mRNA nucleotide position 266. This introduces a stop codon in the sequence of the normally spliced transcript and it also creates a new splice donor site in exon 2. Use of this alternative splice site yields a transcript with an in-frame 21 base pair deletion that deletes 7 amino acids from the translated protein. Northern blots failed to detect this size difference and did not find any change from normal in transcript expression level. [J:71302] | ||
| Allele Symbol | Pax3Sp | ||
| Allele Name | splotch | ||
| Common Name(s) | Sp; | ||
| Strain of Origin | C57BL | ||
| 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; | ||
| Molecular Note | 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. [J:3731] | ||
Related Strains
Strains carrying Mlphln allele
000112 B6.Cg-Sgk3fz H54 Mlphln/+ H54 +/J 000668 C57L/J 000643 DW/J Mlphln Pou1f1dw/J 000275 V/LeJ View Strains carrying Mlphln (4 strains)
000311 B6-Pax3Sp.Cg-N/J 002469 C57BL/6J-Pax3Sp/J
000681 DW.C3-Mlph+ Pou1f1+/J 001640 STOCK Mlphln-l1Rk3/J
005549 B6;129-Pax3tm1(cre)Joe/J 000565 C57BL/6J-Pax3Sp-d/J
Research Applications
This mouse can be used to support research in many areas including:Mlphln related
Pax3Sp relatedDermatology Research
Color and White Spotting Defects
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 ReferencesPrice and Supply Information
| Strain Name: | STOCK Pax3Sp Mlphln/J |
| Stock Number: | 002902 |
Price Details
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Supply Details
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to the Supply Notes for further information. |
|---|---|
| Supply Notes |
Cryorecovery of Strains Needing Progeny Testing. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two untested males and two untested females (two pairs) will be recovered, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. However, all pups recovered will be sent. Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals (at least two untested pairs) to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation. Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 or 1-207-288-5845. Cryorecovery to establish a Dedicated Supply for greater quantities of mice |
| Licensing | See General Terms and Conditions below |
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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.Ordering and Purchasing Information
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