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   Donating Investigator The Jackson Laboratory,

Appearance
mutiple coat colors
Related Genotype: segregating for a, A^w, Oca2^p, and Tyr^c

Description
Mice homozygous for the Ednrb^tm1Ywa targeted mutation are viable at birth, but usually die within the first month. They show a disruption of neural crest lineage development, which is characterized by a lack of hair or skin pigmentation in 90% of their body. They die due to peritonitis from distention caused by an aganglionic megacolon. This strain may be used as a model for human Hirschsprung's disease. This mutation is allelic with the piebald lethal spontaneous mutation.

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
000674	I/LnJ
000676	LP/J
000308	SSL/LeJ
004711	STOCK Ednrbs-52Pub
009063	STOCK Ednrbtm1Nrd/J
000275	V/LeJ

View Strains carrying other alleles of Ednrb     (7 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

	Hirschsprung Disease, Susceptibility to, 2; HSCR2 - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
	Waardenburg-Shah Syndrome - Models with phenotypic similarity to human disease where etiologies involve orthologs.1

1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Ednrb^tm1Ywa/Ednrb⁺

        involves: 129S/SvEvBrd

• touch/vibrissae phenotype
• hypoalgesia (MGI Ref ID J:103977)
  • algesic response to phenylbenzoquinone is reduced by 80%
• immune system phenotype
• decreased acute inflammation (MGI Ref ID J:103977)
  • inflammatory response to topical application of arachidonic acid is reduced by 37 or 51%
  • pruritic response is normal
• behavior/neurological phenotype
• hypoalgesia (MGI Ref ID J:103977)
  • algesic response to phenylbenzoquinone is reduced by 80%

Ednrb^tm1Ywa/Ednrb^tm1Ywa

        involves: 129S5/SvEvBrd

• life span-post-weaning/aging
• premature death (MGI Ref ID J:22206)
  • all die prematurely with an average age at death of 25 days
• growth/size phenotype
• cachexia (MGI Ref ID J:22206)
  • although appearing normal at birth, all become increasingly sick and emaciated from week 2 to 4
• postnatal growth retardation (MGI Ref ID J:22206)
• skin/coat/nails phenotype
• abnormal coat/hair pigmentation (MGI Ref ID J:22206)
• abnormal hair follicle melanocyte morphology (MGI Ref ID J:22206)
  • absence of melanocytes in hair bulbs where the coat is white and normal numbers in pigmented areas
• white spotting (MGI Ref ID J:22206)
  • extensive white spotting becomes apparent by day 3-4
  • 90% of the coat is white
  • absence of melanin in the coat hair where the hair is white
• white skin spotting (MGI Ref ID J:22206)
  • extensive white spotting becomes apparent by day 3-4
  • 90% of the skin is unpigmented
• digestive/alimentary phenotype
• aganglionic megacolon (MGI Ref ID J:22206)
  • gross distention of the intestine
  • myenteric ganglion neurons between the longitudinal muscle layer and the inner circular smooth muscle layer are completely absent in the spastic colon
  • sometimes with perforations leading to peritonitis
• intestinal obstruction (MGI Ref ID J:22206)
  • distal portion of the colon is narrow and spastic
  • variable but spastic colon usually spans the entire sigmoid colon to the distal rectum (aganglionic megacolon region)
• vision/eye phenotype
• abnormal choroid pigmentation (MGI Ref ID J:22206)
  • choroid layer of the retina lacks melanin but the retinal pigment epithelium is normal
• touch/vibrissae phenotype
• hypoalgesia (MGI Ref ID J:103977)
  • algesic response to phenylbenzoquinone is absent
• immune system phenotype
• decreased acute inflammation (MGI Ref ID J:103977)
  • inflammatory response to topical application of arachidonic acid is significantly reduced (by about 65%)
  • pruritic response is normal
• pigmentation phenotype
• abnormal choroid pigmentation (MGI Ref ID J:22206)
  • choroid layer of the retina lacks melanin but the retinal pigment epithelium is normal
• abnormal coat/hair pigmentation (MGI Ref ID J:22206)
• abnormal hair follicle melanocyte morphology (MGI Ref ID J:22206)
  • absence of melanocytes in hair bulbs where the coat is white and normal numbers in pigmented areas
• white spotting (MGI Ref ID J:22206)
  • extensive white spotting becomes apparent by day 3-4
  • 90% of the coat is white
  • absence of melanin in the coat hair where the hair is white
• white skin spotting (MGI Ref ID J:22206)
  • extensive white spotting becomes apparent by day 3-4
  • 90% of the skin is unpigmented
• behavior/neurological phenotype
• hypoalgesia (MGI Ref ID J:103977)
  • algesic response to phenylbenzoquinone is absent

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Ednrb^tm1Ywa 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

Allele Symbol		Ednrbtm1Ywa
Allele Name		targeted mutation 1, Masashi Yanagisawa
Allele Type		Targeted (knock-out)
Common Name(s)		enrb/enrb;
Mutation Made By		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; ETB; ETBR; ETR-b; ETRB; Ednra; HSCR; HSCR2; Sox10m1; 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

Ednrb^tm1Ywa, Standard PCR

Helpful Links

Genotyping resources and troubleshooting

References

References

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]

Ednrb^tm1Ywa related

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]

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]

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]

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

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

Supply Details

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery - Standard. 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. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 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). This strain is included in the Induced Mutant Resource Colony collection. 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
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

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See Terms of Use tab for General Terms and Conditions

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.

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phone:	207-288-6470
fax:	207-288-6655

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