Go to JAX® Mice Query Form

Strain Name:

B6;129-Ednrbtm1Ywa/J

Stock Number:

003295

Availability:

Repository-Cryopreserved

View Pricing for USA, Canada and Mexico
View Pricing for International

General Terms and Conditions

Genes & Alleles   Ednrb;   Ednrbtm1Ywa;

Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Stock
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Targeted Mutation
Specieslaboratory mouse
Donating Investigator The Jackson Laboratory,  
GenerationN1F1+N1p

Appearance
mutiple coat colors
Related Genotype: segregating for a, Aw, Oca2p, and Tyrc

Strain Description
Mice homozygous for the Ednrbtm1Ywa 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.

Related Disease (OMIM) Terms

Hirschsprung Disease, Susceptibility to, 2; HSCR2
Waardenburg-Shah Syndrome
Mammalian Phenotype Terms assigned by genotype

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

Ednrbtm1Ywa/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%

Ednrbtm1Ywa/Ednrbtm1Ywa

        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 color (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 color (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

Gene & Allele Details

Allele Symbol Ednrbtm1Ywa
Allele Name targeted mutation 1, Masashi Yanagisawa
Common Name(s) enrb/enrb;
Mutation Made By Masashi Yanagisawa,   Southwestern Medical School
Strain of Origin129S7/SvEvBrd
ES Cell Line NameJH1
ES Cell Line Strain129S7/SvEvBrd
Gene Symbol and Name Ednrb, endothelin receptor type B
Chromosome 14
Gene Common Name(s) ABCDS; AU022549; ETB; ETBR; 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]

Control Information

  Allele   Control
 Ednrbtm1Ywa  Wild-type from the colony
 Ednrbtm1Ywa  100903 B6129PF2/J
 
  Considerations for Choosing Controls

Genotyping Protocols

NEOTD (Generic Neo)

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
000275   V/LeJ
View Strains carrying other alleles of Ednrb     (6 strains)

Research Applications

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

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

Price and Supply Information

Strain Name: B6;129-Ednrbtm1Ywa/J
Stock Number: 003295

Price Details

IMPORTANT NOTE: Prices are based on shipping destination. To view prices, select your shipping destination.

*NO Shipping Destination selected!

 

Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to the Supply Notes for further information.
Supply Notes Cryorecovery - Standard.
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 males and two females (two pairs) will be provided, 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 delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that 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. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.
This strain is included in the Induced Mutant Resource Colony collection.
Genomic DNA is available for this strain from the Mouse DNA Resource.

LicensingSee General Terms and Conditions below  
Control InformationView Control Information in Strain Details.

General Terms and Conditions

View JAX® Mice & Services Conditions of Use.

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

      Purchasing Information
      JAX® Mice Orders
      Surgical Services

Contact Information
Orders & Technical Support
Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
Technical Support Email Form

Go to JAX® Mice Query Form

(2.13)