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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 Mutant Stock; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N1F1+N1p
Generation DefinitionsDonating Investigator The Jackson Laboratory, Appearance
mutiple coat colors
Related Genotype: segregating for a, Aw, Oca2p, and TyrcDescription
In this strain, a neo cassette replaces exon 3 of the endothelin receptor type B (Ednrb) gene, abolishing gene function. Ednrb encodes a G protein-coupled receptor expressed in vascular endothelial cells where it is involved in vasoconstriction, vasodilation, bronchoconstriction and cell proliferation. Mutations have been associated with Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) characterized by deafness, neural crest defects, pigmentation changes, and Hirschsprung's disease. Hirschsprung's disease is an intestinal disorder that causes intestinal blockage. Homozygotes are viable but usually die within the first month of life. They show a disruption of neural crest lineage development, which is characterized by a lack of hair or skin pigmentation on 90% of their body. They die due to peritonitis from distention caused by an aganglionic megacolon. The phenotype is less severe on this B6/129 hybrid background than on the congenic C57BL/6J background (Stock No. 021933) in that these mice tend to have later onset enterocolitis and have a longer life-span. This mutation is allelic with the piebald lethal spontaneous mutation.Development
A targeting vector was designed to replace exon 3 of the endothelin receptor type B (Ednrb) gene with a neomycin resistance (neo) cassette. The construct was electroporated into 129S7/SvEvBrd-derived JH-1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts and the resulting chimeric males were bred to C57BL/6 females. These mice were maintained on a mixed background. Upon arrival at The Jackson Laboratory, mice were bred to C57BL/6J (Stock No. 000664) for at least one generation to establish the colony.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 100903 B6129PF2/J | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying other alleles of Ednrb
000577 B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J 011080 B6;129-Ednrbtm1.1Nat/J 000674 I/LnJ 003720 JF1/Ms 000676 LP/J 000308 SSL/LeJ 004711 STOCK Ednrbs-52Pub 009063 STOCK Ednrbtm1Nrd/J 000275 V/LeJ View Strains carrying other alleles of Ednrb (9 strains)
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, 2; HSCR2
Waardenburg Syndrome, Type 4A; WS4A
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Abcd Syndrome; ABCDS (EDNRB)
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Ednrbtm1Ywa/Ednrb+
involves: 129S/SvEvBrd
- immune system phenotype
- decreased acute inflammation
- behavior/neurological phenotype
- hypoalgesia
- algesic response to phenylbenzoquinone is reduced by 80% (MGI Ref ID J:103977)
- integument phenotype
- hypoalgesia
- algesic response to phenylbenzoquinone is reduced by 80% (MGI Ref ID J:103977)
Ednrbtm1Ywa/Ednrbtm1Ywa
involves: 129S5/SvEvBrd
- mortality/aging
- premature death
- all die prematurely with an average age at death of 25 days (MGI Ref ID J:22206)
- growth/size phenotype
- cachexia
- although appearing normal at birth, all become increasingly sick and emaciated from week 2 to 4 (MGI Ref ID J:22206)
- postnatal growth retardation (MGI Ref ID J:22206)
- digestive/alimentary phenotype
- aganglionic megacolon
- intestinal obstruction
- vision/eye phenotype
- abnormal choroid pigmentation
- choroid layer of the retina lacks melanin but the retinal pigment epithelium is normal (MGI Ref ID J:22206)
- immune system phenotype
- decreased acute inflammation
- pigmentation phenotype
- abnormal choroid pigmentation
- choroid layer of the retina lacks melanin but the retinal pigment epithelium is normal (MGI Ref ID J:22206)
- abnormal coat/hair pigmentation (MGI Ref ID J:22206)
- abnormal hair follicle melanocyte morphology
- absence of melanocytes in hair bulbs where the coat is white and normal numbers in pigmented areas (MGI Ref ID J:22206)
- white spotting
- variable depigmentation
- behavior/neurological phenotype
- hypoalgesia
- algesic response to phenylbenzoquinone is absent (MGI Ref ID J:103977)
- integument phenotype
- abnormal coat/hair pigmentation (MGI Ref ID J:22206)
- abnormal hair follicle melanocyte morphology
- absence of melanocytes in hair bulbs where the coat is white and normal numbers in pigmented areas (MGI Ref ID J:22206)
- white spotting
- hypoalgesia
- algesic response to phenylbenzoquinone is absent (MGI Ref ID J:103977)
- variable depigmentation
This mouse can be used to support research in many areas including:Ednrbtm1Ywa related
Dermatology Research
Color and White Spotting Defects
Developmental Biology Research
Neural Crest Defects
Mouse/Human Gene Homologs
Hirschsprung disease
Neurobiology Research
Neurodevelopmental Defects
Receptor Defects
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Ednrbtm1Ywa | ||
|---|---|---|---|
| Allele Name | targeted mutation 1, Masashi Yanagisawa | ||
| Allele Type | Targeted (knock-out) | ||
| Common Name(s) | enrb/enrb; | ||
| Mutation Made By | Dr. Masashi Yanagisawa, Southwestern Medical School | ||
| Strain of Origin | 129S7/SvEvBrd | ||
| ES Cell Line Name | JH1 | ||
| ES Cell Line Strain | 129S7/SvEvBrd | ||
| Gene Symbol and Name | Ednrb, endothelin receptor type B | ||
| Chromosome | 14 | ||
| Gene Common Name(s) | ABCDS; AU022549; ET-B; ET-BR; ETB; ETBR; ETR-b; ETRB; Ednra; HSCR; HSCR2; Sox10m1; WS4A; expressed sequence AU022549; piebald; s; | ||
| Molecular Note | A neomycin resistance cassette replaced a 4.2kb segment of the gene, which contained exon 3. Exon 3 encodes the fourth transmembrane helix of the protein. Functional analysis showed that the allele is null. [MGI Ref ID J:22206] | ||
Genotyping
Genotyping Information
Genotyping Protocols
Ednrbtm1Ywa, Standard PCR
Generic Neo Melt Curve Analysis,Robotic MCA
Generic Neo Melt Curve Analysis, Melt Curve Analysis
Helpful Links
Genotyping resources and troubleshooting
References
References provided by MGI
Selected Reference(s)
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]
Additional References
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]
Ednrbtm1Ywa relatedCantrell 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]
Griswold DE; Douglas SA; Martin LD; Davis TG; Davis L; Ao Z; Luttmann MA; Pullen M; Nambi P; Hay DW; Ohlstein EH. 1999. Endothelin B receptor modulates inflammatory pain and cutaneous inflammation. Mol Pharmacol 56(4):807-12. [PubMed: 10496965] [MGI Ref ID J:103977]
Ida-Eto M; Ohgami N; Iida M; Yajima I; Kumasaka MY; Takaiwa K; Kimitsuki T; Sone M; Nakashima T; Tsuzuki T; Komune S; Yanagisawa M; Kato M. 2011. Partial requirement of endothelin receptor B in spiral ganglion neurons for postnatal development of hearing. J Biol Chem 286(34):29621-6. [PubMed: 21715336] [MGI Ref ID J:176627]
Kumasaka MY; Yajima I; Hossain K; Iida M; Tsuzuki T; Ohno T; Takahashi M; Yanagisawa M; Kato M. 2010. A novel mouse model for de novo Melanoma. Cancer Res 70(1):24-9. [PubMed: 20048069] [MGI Ref ID J:155735]
Kuwaki T; Ling GY; Onodera M; Ishii T; Nakamura A; Ju KH; Cao WH; Kumada M; Kurihara H; Kurihara Y; Yazaki Y; Ohuchi T; Yanagisawa M; Fukuda Y. 1999. Endothelin in the central control of cardiovascular and respiratory functions. Clin Exp Pharmacol Physiol 26(12):989-94. [PubMed: 10626068] [MGI Ref ID J:60070]
Liu L; Zacchia M; Tian X; Wan L; Sakamoto A; Yanagisawa M; Alpern RJ; Preisig PA. 2010. Acid regulation of NaDC-1 requires a functional endothelin B receptor. Kidney Int 78(9):895-904. [PubMed: 20703215] [MGI Ref ID J:184248]
Yanagisawa H; Yanagisawa M; Kapur RP; Richardson JA; Williams SC; Clouthier DE; de Wit D; Emoto N; Hammer RE. 1998. Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene. Development 125(5):825-36. [PubMed: 9449665] [MGI Ref ID J:46640]
Health & husbandry
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.
Health & Colony Maintenance Information
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.Colony Maintenance
Breeding & Husbandry When maintaining a live colony, heterozygous mice may be bred to wildtype mice from the colony. Homozygotes are viable but usually die within the first month of life.
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $3000.00 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* $3900.00 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 | ||
|---|---|---|
| Wild-type from the colony | ||
| 100903 B6129PF2/J | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
Payment Terms and Conditions
Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
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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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General inquiries regarding Terms of UseContracts Administration
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
JAX® Mice, Products & Services Conditions of Use
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