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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
Description
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Strain Information
Type Mutant Stock; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Development
Dominant megacolon (Sox10Dom), expressed as a variable size white belly spot and white feet arose, spontaneously in a hybrid stock carrying bouncy (B6C3Fe a/a-bc) at N12 in 1979. Already on a predominantly B6C3Fe-a/a F1 background it was continued on this hybrid background by mating a Sox10Dom/+ mouse to the F1 hybrid each generation. Sox10Dom was cryopreserved in 1986 by mating heterozygous females at N34F1 to B6C3Fe-a/a F1 hybrid males and discontinued on the shelf in 1988.
Related Strains
Strains carrying a allele
View Strains carrying a (104 strains)
Phenotype
Phenotype Information
Hirschsprung Disease, Susceptibility to, 1; HSCR1 - Models with phenotypic similarity to human disease where etiologies are distinct.2
2 Human genes are associated with this disease. Orthologs of those genes do not appear in the mouse genotype(s).
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Sox10Dom/Sox10+
C57BL/6JLe
- lethality-postnatal
- lethality at weaning (MGI Ref ID J:7688)
- survivability depends on genetic background with few mice surviving to weaning and dying soon thereafter on C57BL/6 and and 70 percent weaned from a B6C3 hybrid background survivability depends on genetic background with few mice surviving to weaning and dying soon thereafter on C57BL/6 and and 70 percent weaned from a B6C3 hybrid background
- pigmentation phenotype
- variable body spotting (MGI Ref ID J:7688)
- on belly and feet
- digestive/alimentary phenotype
- megacolon (MGI Ref ID J:7688)
- distended colon is evident by 10 days of age
- myenteric ganglion cells of the midportion of the colon are reduced by 90 percent and are virtually absent in the distal one-half of the colon
- skin/coat/nails phenotype
- variable body spotting (MGI Ref ID J:7688)
- on belly and feet
Sox10Dom/Sox10Dom
C57BL/6JLe
- lethality-prenatal/perinatal
- embryonic lethality during organogenesis (MGI Ref ID J:7688)
- lethal prior to E13
This mouse can be used to support research in many areas including:Sox10Dom related
Dermatology Research
Color and White Spotting Defects
Developmental Biology Research
Internal/Organ Defects
megacolon
Internal/Organ Research
Spleen Defects
asplenic
Mouse/Human Gene Homologs
Hirschsprung disease
Waardenburg-Shah syndrome
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Sox10Dom | ||
|---|---|---|---|
| Allele Name | dominant megacolon | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Dom; | ||
| Strain of Origin | C57BL/6JLe | ||
| Gene Symbol and Name | Sox10, SRY-box containing gene 10 | ||
| Chromosome | 15 | ||
| Gene Common Name(s) | DOM; Dom; MGC15649; SRY-box containing gene 21; Sox21; WS2E; WS4; dominant megacolon; | ||
| General Note | Genbank ID for this mutation: AF047389 | ||
| Molecular Note | Insertion of a guanine residue is predicted to result in a translational frame shift in the postulated ORF, replacing the putative activation domain with 99 novel amino acids ahead of a translational termination signal. Northern analysis using a Sox10 cDNA probe detected reduced amounts of transcript in E12.5 and E16.5 homozygous mutant embryos, compared to wild-type embryos (J:45117). An A32T transversion in the ORF is predicted to cause a substitution of glutamate by valine. Whole mount in situ hybridization studies of homozygous mutant E10.5 embryos did not detect Sox10 expression in cranial ganglia and nerves, detected reduced expression along motor nerves, and detected expression in the trunk neural crest-derived dorsal root ganglia. In situ hybridization studies did not detect expression in intestine of homozygous mutant E14.5 embryos. (J:47640). In situ hybridization studies of E11.5 homozygous mutant embryos detected reduced numbers of cells that express the mutant allele in dorsal root ganglia and along the spinal nerves (J:67383). [MGI Ref ID J:45117] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Mollaaghababa R; Pavan WJ. 2003. The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia. Oncogene 22(20):3024-34. [PubMed: 12789277] [MGI Ref ID J:83815]
Potterf SB; Mollaaghababa R; Hou L; Southard-Smith EM; Hornyak TJ; Arnheiter H; Pavan WJ. 2001. Analysis of sox10 function in neural crest-derived melanocyte development: sox10-dependent transcriptional control of dopachrome tautomerase. Dev Biol 237(2):245-57. [PubMed: 11543611] [MGI Ref ID J:71587]
Sox10Dom relatedBritsch S; Goerich DE; Riethmacher D; Peirano RI; Rossner M; Nave KA; Birchmeier C; Wegner M. 2001. The transcription factor Sox10 is a key regulator of peripheral glial development. Genes Dev 15(1):66-78. [PubMed: 11156606] [MGI Ref ID J:67383]
Broman KW; Sen S; Owens SE; Manichaikul A; Southard-Smith EM; Churchill GA. 2006. The X chromosome in quantitative trait locus mapping. Genetics 174(4):2151-8. [PubMed: 17028340] [MGI Ref ID J:117027]
Cantrell VA; Owens SE; Chandler RL; Airey DC; Bradley KM; Smith JR; Southard-Smith EM. 2004. Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease. Hum Mol Genet 13(19):2289-301. [PubMed: 15294878] [MGI Ref ID J:93622]
Gestblom C; Sweetser DA; Doggett B; Kapur RP. 1999. Sympathoadrenal hyperplasia causes renal malformations in Ret(MEN2B)-transgenic mice. Am J Pathol 155(6):2167-79. [PubMed: 10595945] [MGI Ref ID J:58850]
Hakami RM; Hou L; Baxter LL; Loftus SK; Southard-Smith EM; Incao A; Cheng J; Pavan WJ. 2006. Genetic evidence does not support direct regulation of EDNRB by SOX10 in migratory neural crest and the melanocyte lineage. Mech Dev 123(2):124-34. [PubMed: 16412618] [MGI Ref ID J:105843]
Herbarth B; Pingault V; Bondurand N; Kuhlbrodt K; Hermans-Borgmeyer I; Puliti A; Lemort N; Goossens M; Wegner M. 1998. Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. Proc Natl Acad Sci U S A 95(9):5161-5. [PubMed: 9560246] [MGI Ref ID J:47640]
Kapur RP. 1999. Early death of neural crest cells is responsible for total enteric aganglionosis in Sox10(Dom)/Sox10(Dom) mouse embryos. Pediatr Dev Pathol 2(6):559-69. [PubMed: 10508880] [MGI Ref ID J:59757]
Kapur RP; Livingston R; Doggett B; Sweetser DA; Siebert JR; Palmiter RD. 1996. Abnormal microenvironmental signals underlie intestinal aganglionosis in Dominant megacolon mutant mice. Dev Biol 174(2):360-9. [PubMed: 8631507] [MGI Ref ID J:32868]
Lane PW. 1982. Dominant megacolon (Dom) Mouse News Lett 66:66. [MGI Ref ID J:13909]
Lane PW; Liu HM. 1984. Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered 75(6):435-9. [PubMed: 6512238] [MGI Ref ID J:7688]
Mollaaghababa R; Pavan WJ. 2003. The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia. Oncogene 22(20):3024-34. [PubMed: 12789277] [MGI Ref ID J:83815]
Owens SE; Broman KW; Wiltshire T; Elmore JB; Bradley KM; Smith JR; Southard-Smith EM. 2005. Genome-wide linkage identifies novel modifier loci of aganglionosis in the Sox10Dom model of Hirschsprung disease. Hum Mol Genet 14(11):1549-58. [PubMed: 15843399] [MGI Ref ID J:118320]
Potterf SB; Furumura M; Dunn KJ; Arnheiter H; Pavan WJ. 2000. Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. Hum Genet 107(1):1-6. [PubMed: 10982026] [MGI Ref ID J:63953]
Potterf SB; Mollaaghababa R; Hou L; Southard-Smith EM; Hornyak TJ; Arnheiter H; Pavan WJ. 2001. Analysis of sox10 function in neural crest-derived melanocyte development: sox10-dependent transcriptional control of dopachrome tautomerase. Dev Biol 237(2):245-57. [PubMed: 11543611] [MGI Ref ID J:71587]
Puliti A; Poirier V; Goossens M; Simonneau M. 1996. Neuronal defects in genotyped dominant megacolon (Dom) mouse embryos, a model for Hirschsprung disease. Neuroreport 7(2):489-92. [PubMed: 8730812] [MGI Ref ID J:32994]
Southard-Smith EM; Angrist M; Ellison JS; Agarwala R; Baxevanis AD; Chakravarti A; Pavan WJ. 1999. The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. Genome Res 9(3):215-25. [PubMed: 10077527] [MGI Ref ID J:53978]
Southard-Smith EM; Kos L; Pavan WJ. 1998. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat Genet 18(1):60-4. [PubMed: 9425902] [MGI Ref ID J:45117]
Stanchina L; Baral V; Robert F; Pingault V; Lemort N; Pachnis V; Goossens M; Bondurand N. 2006. Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development. Dev Biol 295(1):232-49. [PubMed: 16650841] [MGI Ref ID J:110698]
Health & husbandry
Health & Colony Maintenance Information
Currently there no information available for this strain. This may be due to the supply level of this strain.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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Payment Terms and Conditions
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The Jackson Laboratory's Genotype Promise
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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