Strain Name    : C57BL/6-Edn3ls/Mmmh

Stock Number : 000181-MU

Gene Information

(provided by MGI)
Allele Symbol: Edn3ls
Name: lethal spotting
Chromosome: 2; 104.0 cM
Alteration at locus: Spontaneous Mutation
Gene Symbol: Edn3
Name: endothelin 3
Chromosome: 2
Alteration at locus: Spontaneous Mutation
Genetic Alterations:
Spontaneous Mutation

Genotype Determination:

ES Cell Line: Not Applicable

Phenotype

Spotted coat. The heterozygous mouse has an increase in the length of the white tail tip.
Description of White Spotting mutants


Mammalian Phenotype Terms:(provided by MGI)      Extend all MPTs
      assigned by genotype

The following phenotype information may relate to one or more alleles on a genetic background differing from this MMRRC strain.
Edn3ls/Edn3+
        involves: C57BL
  • pigmentation phenotype
    • abnormal melanosome morphology (MGI Ref ID J:12724)
      • 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
Edn3ls/Edn3ls
        involves: C57BL
  • mortality/aging
    • complete postnatal lethality (MGI Ref ID J:12724)
      • die between 2 and 3 weeks of age
    • complete postnatal lethality (MGI Ref ID J:5008)
  • pigmentation phenotype
    • abnormal melanosome morphology (MGI Ref ID J:12724)
      • melanosomes are absent in hair, Harderian gland, choroid, leg muscles, and ankle skin and are reduced in the membranous labyrinth of the ear
    • variable body spotting (MGI Ref IDs J:5008, J:12724)
      • (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 IDs J:5008, J:12724)
      • (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 (MGI Ref ID J:5008)
      • deficiency of ganglion cells of the myenteric plexus of the lower colon
    • abnormal melanoblast morphology (MGI Ref ID J:12724)
      • impaired expansion and differentiation of epidermal melanoblasts
  • embryogenesis phenotype
    • abnormal melanoblast morphology (MGI Ref ID J:12724)
      • impaired expansion and differentiation of epidermal melanoblasts
  • integument phenotype
    • variable body spotting (MGI Ref IDs J:5008, J:12724)
      • (MGI Ref ID J:5008)
      • variable white spotting on the back and the belly is usually all white (MGI Ref ID J:12724)




Strain of Origin: C57BL/6-at

Strain genetic background: C57BL/6J

Strain Development: Mutant backcrossed to C57BL/6J to eliminate at and possible confounding effects in pigmentation studies involving Edn3ls. Donating Investigator created congenic B6 mice and JU mice that were lethal-spotted and were non-agouti (as is normal for both B6 and JU).

Suggested Control Mice:

  • Wildtype littermates

  • Pigment cell research
  • Development
  • Hirschsprung Disease. Note: Endothelin3 (encoded at lethal spotting locus) must interact with Ednrb (encoded at piebald locus) if Hirschsprung's disease is to be prevented.

Donor: Lynn Lamoreux, Ph.D., Texas A&M University

Primary Reference:

  • Lamoreux ML. Strain-specific white-spotting patterns in laboratory mice. Lamoreux, ML. Pigment cell research 12(6):383-90, 1999. (Medline PMID: 10614578)
  • Pavan WJ, Liddell RA, Wright A, Thibaudeau G, Matteson PG, McHugh KM, Siracusa LD. A high-resolution linkage map of the lethal spotting locus: a mouse model for Hirschsprung disease. Mamm Genome. 1995 Jan;6(1):1-7. (Medline PMID: 7719019)
  • Baynash AG, Hosoda K, Giaid A, Richardson JA, Emoto N, Hammer RE, Yanagisawa M. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell. 1994 Dec 30;79(7):1277-85. (Medline PMID: 8001160)
  • Rice J, Doggett B, Sweetser DA, Yanagisawa H, Yanagisawa M, Kapur RP. Transgenic rescue of aganglionosis and piebaldism in lethal spotted mice. Dev Dyn. 2000 Jan;217(1):120-32. (Medline PMID: 10679935)
  • McCallion AS, Chakravarti A. EDNRB/EDN3 and Hirschsprung disease type II. Pigment Cell Res. 2001 Jun;14(3):161-9. (Medline PMID: 11434563)

Colony and Husbandry Information

Feed 9% fat breeder chow.

Colony Surveillance Program and Current Health Reports

Mice recovered from a cryo-archive will have health surveillance performed on recipient females. Health reports will be provided prior to shipment. If you require additional health status information, please email mmrrc@missouri.edu.

Coat color: homozygous- white spotted

Other:

MMRRC Breeding System: Sib mating

Breeding Scheme(s):

  • Mate heterozygous mice to heterozygous littermates or backcross to C57BL/6J mice.

Generation: N>10

Overall Breeding Performance: Good. Heterozygous mice can be difficult to distiguish from wild type mice. If backcross mating is performed, it is best to breed suspected heterozygous mice to suspected heterozygous females to confirm that breeders are indeed heterozygous through the production of spotted offspring prior to the backcross mating. Breeder pairs should be confirmed heterozygous by looking for the presence of spotted homozygous pups.

Viability and Fertility:FemaleMaleComments
Homozygotes are viable: No* No*
Homozygotes are fertile: No; early death No: early death
Heterozygotes are fertile: Yes Yes
* ls is lethal, very rarely JU-Edn3 could survive, but not B6-Edn3 homozygote 
Age Reproductive Decline: 32 weeks 32 weeks

Average litter size: 6

Recommended wean age: 3 weeks

Order Request Information

Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.

Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.
Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.
Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
MMRRC Item # Description
Distribution
Fee/unit (US $)
Units Notes
000181-MU-RESUSLitter recovered from cryo-archive
$2,022.00 / $4,109.00
Non-Profit / For-Profit
Litter Recovered litter1; additional fees for any special requests.
000181-MU-SPERMCryo-preserved spermatozoa
$437.00 / $817.00
Non-Profit / For-Profit
Aliquot Approximate quantity.2
000181-MU-EMBRYOCryo-preserved embryos
$1,038.00 / $2,621.00
Non-Profit / For-Profit
Aliquot Approximate quantity3: 20-40 embryos / aliquot

1 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

2 An aliquot is one straw or vial with sufficient sperm to recover at least one litter of mice, as per provided protocols, when performed at the MMRRC facility. The MMRRC makes no guarantee concerning the success of these procedures when performed outside the MMRRC facilities.

3 An aliquot contains a sufficient number of embryos (in one or more vials and based on the transfer success rate of the MMRRC facility) to transfer to at least two recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section above). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.



To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.