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- Description
- Disease & phenotype
- Genes & alleles
- Genotyping
- Health & care
- References
- Pricing & purchasing
- 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 Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Type Inbred Strain; Additional information on Inbred Strains. Visit our online Nomenclature tutorial. Species laboratory mouse Generation F81p+F1p
Generation DefinitionsAppearance
black and tan
Related Genotype: at Edn3ls/at +
black with white spots, early lethal
Related Genotype: at Edn3ls/at Edn3lsImportant Note
This strain is homozygous for at and segregating for Edn3ls.Description
Mice homozygous for the lethal spotting mutation (Edn3ls) resemble piebald mice (Ednrbs/Ednrbs) mice. Homozygous mutant mice exhibit considerable white spotting and like homozygotes for the piebald-lethal allele (Ednrbs-l) usually develop megacolon. Lethal spotting mutant mice usually die in the third week of life from the megacolon abnormality, which is associated with deficiency of intrinsic ganglion cells in the lower colon. A few homozygotes may survive and breed. This strain is also homozygous for the black and tan coat color mutation (at).
Control Information
| Control | ||
|---|---|---|
| Heterozygote from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying at allele
000477 B10.PA-Bloc1s6pa H3e at/SnJ 000419 B10.UW-H3b we Pax1un at/SnJ 000065 B6C3Fe a/a-we Pax1un at/J View Strains carrying at (3 strains)
002516 129-Edn3tm1Ywa/J
Phenotype
Phenotype Information
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Hirschsprung Disease, Susceptibility to, 4; HSCR4
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Central Hypoventilation Syndrome, Congenital; CCHS (EDN3)
Skin/Hair/Eye Pigmentation, Variation In, 9; SHEP9 (ASIP)
Waardenburg Syndrome, Type 4b; WS4B (EDN3)
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Edn3ls/Edn3+
involves: C57BL
- pigmentation phenotype
- abnormal melanosome morphology
- reduced number of melanosomes in leg musculature, the Harderian gland, ankle skin and choroid layer, however melanocyte content in hair follicles and membranous labyrinth of the ear is normal (MGI Ref ID J:12724)
Edn3ls/Edn3ls
involves: C57BL
- mortality/aging
- complete postnatal lethality (MGI Ref ID J:5008)
- die between 2 and 3 weeks of age (MGI Ref ID J:12724)
- pigmentation phenotype
- abnormal melanosome morphology
- melanosomes are absent in hair, Harderian gland, choroid, leg muscles, and ankle skin and are reduced in the membranous labyrinth of the ear (MGI Ref ID J:12724)
- variable body spotting (MGI Ref ID J:5008)
- variable white spotting on the back and the belly is usually all white (MGI Ref ID J:12724)
- digestive/alimentary phenotype
- megacolon (MGI Ref ID J:12724)
- distal four sections of the colon are aganglionic (MGI Ref ID J:5008)
- nervous system phenotype
- abnormal enteric ganglia morphology
- deficiency of ganglion cells of the myenteric plexus of the lower colon (MGI Ref ID J:5008)
- abnormal melanoblast morphology
- impaired expansion and differentiation of epidermal melanoblasts (MGI Ref ID J:12724)
- embryogenesis phenotype
- abnormal melanoblast morphology
- impaired expansion and differentiation of epidermal melanoblasts (MGI Ref ID J:12724)
- integument phenotype
- variable body spotting (MGI Ref ID J:5008)
- variable white spotting on the back and the belly is usually all white (MGI Ref ID J:12724)
This mouse can be used to support research in many areas including:Edn3ls related
at relatedDermatology Research
Color and White Spotting Defects
Developmental Biology Research
Neural Crest Defects
Neurodevelopmental Defects
Internal/Organ Research
Kidney Defects
Mouse/Human Gene Homologs
Waardenburg-Shah syndrome
Neurobiology Research
Hearing Defects
Neurodevelopmental Defects
Sensorineural Research
Hearing Defects
Dermatology Research
Color and White Spotting Defects
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Edn3ls | ||
|---|---|---|---|
| Allele Name | lethal spotting | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | ls; | ||
| Strain of Origin | C57BL-a | ||
| Gene Symbol and Name | Edn3, endothelin 3 | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | 114-CH19; 114CH19; ET-3; ET3; HSCR4; PPET3; RGD1564825; Tennessee Mouse Genome Consortium 48; WS4B; lethal spotting; ls; preproET-3; tmgc48; | ||
| General Note |
Lethal spotting mutant mice usually die in the third week of life from the megacolon abnormality, which is associated with deficiency of intrinsic ganglion cells in the lower colon. A few homozygotes may survive and breed. Other alleles of this geneserve as models for WAARDENBURG-SHAH SYNDROME. This allele was not studied in this context. | ||
| Molecular Note | RT-PCR analysis of this allele revealed a missense C to T change at nucleotide 409 of the coding region which results in a substitution of an Arg-137 residue with a Trp residue. [MGI Ref ID J:22207] | ||
| Allele Symbol | at | ||
| Allele Name | black and tan | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | English fancy stock | ||
| Gene Symbol and Name | a, nonagouti | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | AGSW; AGTI; AGTIL; ASP; As; SHEP9; agouti; agouti signal protein; agouti suppressor; | ||
| General Note | This allele is recessive to A and Aw on the dorsum and dominant to all agouti alleles on the ventrum except for Aw from which it is indistinguishable (J:78801) . | ||
| Molecular Note | This allele comprises a 6 kb insertion containing a retrovirus-like transposable element VL30 and a single 526 bp repeat into the first intron of the agouti gene at the same position as for alleles a and Aw. [MGI Ref ID J:16984] | ||
References
References provided by MGI
Additional References
Baynash AG; Hosoda K; Giaid A; Richardson JA; Emoto N; Hammer RE; Yanagisawa M. 1994. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 79(7):1277-85. [PubMed: 8001160] [MGI Ref ID J:22207]
Hosoda K; Hammer RE; Richardson JA; Baynash AG; Cheung JC; Giaid A; Yanagisawa M. 1994. Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 79(7):1267-76. [PubMed: 8001159] [MGI Ref ID J:22206]
Lane PW. 1966. Association of megacolon with two recessive spotting genes in the mouse. J Hered 57(1):29-31. [PubMed: 5917257] [MGI Ref ID J:5008]
Edn3ls relatedat relatedBarlow A; de Graaff E; Pachnis V. 2003. Enteric nervous system progenitors are coordinately controlled by the G protein-coupled receptor EDNRB and the receptor tyrosine kinase RET. Neuron 40(5):905-16. [PubMed: 14659090] [MGI Ref ID J:130623]
Baynash AG; Hosoda K; Giaid A; Richardson JA; Emoto N; Hammer RE; Yanagisawa M. 1994. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 79(7):1277-85. [PubMed: 8001160] [MGI Ref ID J:22207]
Brito FC; Kos L. 2008. Timeline and distribution of melanocyte precursors in the mouse heart. Pigment Cell Melanoma Res 21(4):464-70. [PubMed: 18444965] [MGI Ref ID J:138178]
Chakder S; McHugh KM; Rattan S. 1997. Inhibitory neurotransmission in lethal spotted mutant mice: a model for Hirschsprung's disease. Gastroenterology 112(5):1575-85. [PubMed: 9136836] [MGI Ref ID J:40527]
Coventry S; Yost C; Palmiter RD; Kapur RP. 1994. Migration of ganglion cell precursors in the ileoceca of normal and lethal spotted embryos, a murine model for Hirschsprung disease. Lab Invest 71(1):82-93. [PubMed: 8041122] [MGI Ref ID J:19496]
Garcia RJ; Ittah A; Mirabal S; Figueroa J; Lopez L; Glick AB; Kos L. 2008. Endothelin 3 induces skin pigmentation in a keratin-driven inducible mouse model. J Invest Dermatol 128(1):131-42. [PubMed: 17611578] [MGI Ref ID J:129906]
Howard MJ; Gershon MD. 1998. Development of LBP110 expression by neural crest-derived enteric precursors: migration and differentiation potential in ls/ls mutant mice. J Neurobiol 35(4):341-54. [PubMed: 9624616] [MGI Ref ID J:48411]
Kapur RP; Yost C; Palmiter RD. 1993. Aggregation chimeras demonstrate that the primary defect responsible for aganglionic megacolon in lethal spotted mice is not neuroblast autonomous. Development 117(3):993-9. [PubMed: 8325247] [MGI Ref ID J:4603]
Lane PW. 1966. Association of megacolon with two recessive spotting genes in the mouse. J Hered 57(1):29-31. [PubMed: 5917257] [MGI Ref ID J:5008]
Liddell RA; Mooers SU; Siegman MJ; McHugh KM. 1993. Altered isoactin gene expression in the affected bowel segments of the lethal spotted mouse. Gastroenterology 105(2):441-8. [PubMed: 8335200] [MGI Ref ID J:14502]
Matsushima Y; Shinkai Y; Kobayashi Y; Sakamoto M; Kunieda T; Tachibana M. 2002. A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene. Mamm Genome 13(1):30-5. [PubMed: 11773966] [MGI Ref ID J:76584]
Mayer TC; Maltby EL. 1964. An experimental investigation of pattern development in lethal spotting and belted mouse embryos. Dev Biol 9:269-86. [PubMed: 14138974] [MGI Ref ID J:12724]
Phillips RJS. 1959. New mutants, provisional symbol ls (lethal spotting); my<1>; and agouti-umbrous a<u> Companion Issue to Mouse News Lett #21 :39. [MGI Ref ID J:24725]
Rice J; Doggett B; Sweetser DA; Yanagisawa H; Yanagisawa M; Kapur RP. 2000. Transgenic rescue of aganglionosis and piebaldism in lethal spotted mice. Dev Dyn 217(1):120-32. [PubMed: 10679935] [MGI Ref ID J:59241]
Rothman TP; Chen J; Howard MJ; Costantini F; Schuchardt A; Pachnis V; Gershon MD. 1996. Increased expression of laminin-1 and collagen (IV) subunits in the aganglionic bowel of ls/ls, but not c-ret -/- mice. Dev Biol 178(2):498-513. [PubMed: 8812145] [MGI Ref ID J:35512]
Rothman TP; Gershon MD. 1984. Regionally defective colonization of the terminal bowel by the precursors of enteric neurons in lethal spotted mutant mice. Neuroscience 12(4):1293-311. [PubMed: 6207461] [MGI Ref ID J:13357]
Sandgren K; Larsson LT; Ekelund M; Robinsson D; Ekblad E. 1998. Functional and morphological examination of ganglionic and aganglionic distal gut from the lethal spotted mouse. Eur J Pediatr Surg 8(4):234-9. [PubMed: 9783148] [MGI Ref ID J:113064]
Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York. [MGI Ref ID J:78801]
Spencer NJ; Kerrin A; Singer CA; Hennig GW; Gerthoffer WT; McDonnell O. 2008. Identification of capsaicin-sensitive rectal mechanoreceptors activated by rectal distension in mice. Neuroscience 153(2):518-34. [PubMed: 18395992] [MGI Ref ID J:139378]
Ward SM; Gershon MD; Keef K; Bayguinov YR; Nelson C; Sanders KM. 2002. Interstitial cells of Cajal and electrical activity in ganglionic and aganglionic colons of mice. Am J Physiol Gastrointest Liver Physiol 283(2):G445-56. [PubMed: 12121893] [MGI Ref ID J:107855]
Zagorodnyuk VP; Kyloh M; Nicholas S; Peiris H; Brookes SJ; Chen BN; Spencer NJ. 2011. Loss of visceral pain following colorectal distension in an endothelin-3 deficient mouse model of Hirschsprung's disease. J Physiol 589(Pt 7):1691-706. [PubMed: 21320883] [MGI Ref ID J:185254]
Bultman SJ; Klebig ML; Michaud EJ; Sweet HO; Davisson MT; Woychik RP. 1994. Molecular analysis of reverse mutations from nonagouti (a) to black-and-tan (a(t)) and white-bellied agouti (Aw) reveals alternative forms of agouti transcripts. Genes Dev 8(4):481-90. [PubMed: 8125260] [MGI Ref ID J:16984]
Candille SI; Raamsdonk CD; Chen C; Kuijper S; Chen-Tsai Y; Russ A; Meijlink F; Barsh GS. 2004. Dorsoventral patterning of the mouse coat by tbx15. PLoS Biol 2(1):E3. [PubMed: 14737183] [MGI Ref ID J:87455]
Dickie MM. 1969. Mutations at the agouti locus in the mouse. J Hered 60(1):20-5. [PubMed: 5798139] [MGI Ref ID J:30922]
Dunn LC. 1928. A Fifth Allelomorph in the Agouti Series of the House Mouse. Proc Natl Acad Sci U S A 14(10):816-9. [PubMed: 16587414] [MGI Ref ID J:15011]
Dunn LC. 1936. Studies on multiple allelomorphic series in the house mouse. I. Description of agouti and albino series of allelomorphs J Genet 33:443-53. [MGI Ref ID J:22600]
Galbraith DB; Wolff GL; Brewer NL. 1980. Hair pigment patterns in different integumental environments of the mouse. Influence of the agouti suppressor (A<s>) mutation on expression of agouti locus alleles. J Hered 71:229-234. [MGI Ref ID J:12033]
Hollander WF. 1973. a<t>/a Mouse News Lett 48:33. [MGI Ref ID J:27528]
Leamy LJ; Hrubant HE. 1971. Effects of alleles at the agouti locus on odontometric traits in the C57BL-6 strain of house mice. Genetics 67(1):87-96. [PubMed: 5556294] [MGI Ref ID J:16571]
Miller MW; Duhl DM; Vrieling H; Cordes SP; Ollmann MM; Winkes BM; Barsh GS. 1993. Cloning of the mouse agouti gene predicts a secreted protein ubiquitously expressed in mice carrying the lethal yellow mutation. Genes Dev 7(3):454-67. [PubMed: 8449404] [MGI Ref ID J:4186]
MouseBookTM. 2005. Information obtained from MouseBook<sup>TM</sup>, Medical Research Council Mammalian Genetics Unit, Harwell, UK. Unpublished :. [MGI Ref ID J:169366]
Phillips RJS. 1966. A cis-trans position effect at the A locus of the house mouse. Genetics 54(2):485-95. [PubMed: 5968639] [MGI Ref ID J:5027]
Poole TW. 1982. The agouti suppressor (As) coat color mutation in mice: developmental effects on the expression of agouti locus alleles. J Exp Zool 220(1):57-64. [PubMed: 7077265] [MGI Ref ID J:6763]
Poole TW; Silvers WK. 1976. The development of regional pigmentation patterns in black and tan (at) mice. J Exp Zool 197(1):115-9. [PubMed: 781177] [MGI Ref ID J:5672]
SILVERS WK. 1958. An experimental approach to action of genes at the agouti locus in the mouse. III. Transplants of newborn Aw-, A-and at-skin to Ay-, Aw-, A-and aa hosts. J Exp Zool 137(1):189-96. [PubMed: 13563791] [MGI Ref ID J:13013]
Sandgren K; Larsson LT; Ekelund M; Robinsson D; Ekblad E. 1998. Functional and morphological examination of ganglionic and aganglionic distal gut from the lethal spotted mouse. Eur J Pediatr Surg 8(4):234-9. [PubMed: 9783148] [MGI Ref ID J:113064]
Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York. [MGI Ref ID J:78801]
Summerhayes IC; Franks LM. 1979. Effects of donor age on neoplastic transformation of adult mouse bladder epithelium in vitro. J Natl Cancer Inst 62(4):1017-23. [PubMed: 107359] [MGI Ref ID J:56454]
Vrieling H; Duhl DM; Millar SE; Miller KA; Barsh GS. 1994. Differences in dorsal and ventral pigmentation result from regional expression of the mouse agouti gene. Proc Natl Acad Sci U S A 91(12):5667-71. [PubMed: 8202545] [MGI Ref ID J:18750]
Wolff GL. 1978. Influence of maternal phenotype on metabolic differentiation of agouti locus mutants in the mouse. Genetics 88(3):529-39. [PubMed: 640377] [MGI Ref ID J:5964]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
|
Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2250.00 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.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryorecovery - Standard.
Progeny testing is not required.
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
| Pricing for International shipping destinations |
|
Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2925.00 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.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryorecovery - Standard.
Progeny testing is not required.
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
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Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
General Supply Notes
- Genomic DNA is available for this strain from the Mouse DNA Resource.
Control Information
| Control | ||
|---|---|---|
| Heterozygote from the colony | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
Important Note
This strain is homozygous for at and segregating for Edn3ls.
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 Information
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JAX® Mice, Products & Services Conditions of Use
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