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 Strain; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation F?+3pN1   Donating Investigator Masashi Yanagisawa,   Southwestern Medical School

Description
This mutation is alleleic with the lethal spotting spontaneous mutation. Homozygous mice are viable at birth, but most die within about a month. They show a disruption in neural crest lineage development. They die from peritonitis subsequent to aganglionic megacolon. They may serve as a model for human Hirschsprung's disease.

Control Information

	Control
	Wild-type from the colony
	000691 129X1/SvJ	(approximate)
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Edn3

000262

LS/LeJ

View Strains carrying other alleles of Edn3     (1 strain)

Additional Web Information

New 129 Nomenclature Bulletin

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

	Hirschsprung Disease, Susceptibility to, 1; HSCR1 - 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

Edn3^tm1Ywa/Edn3^tm1Ywa

        involves: 129S7/SvEvBrd

• lethality-postnatal
• postnatal lethality (MGI Ref ID J:22207)
  • mice have a mean life span of 21 days, with a range of 4-65 days
• life span-post-weaning/aging
• premature death (MGI Ref ID J:22207)
  • mice have a mean life span of 21 days, with a range of 4-65 days
• pigmentation phenotype
• variable body spotting (MGI Ref ID J:22207)
  • extensive white spotting (70 - 80% of body surface)
  • white regions showed absence of melanin pigment in coat hair and of melanocytes in the hair bulbs
• digestive/alimentary phenotype
• abnormal colon morphology (MGI Ref ID J:22207)
  • distal portion of colon narrow and spastic; proximal portion of colon distended
• aganglionic megacolon (MGI Ref ID J:22207)
  • absence of myenteric ganglion neurons in distal, spastic segment of colon
• skin/coat/nails phenotype
• variable body spotting (MGI Ref ID J:22207)
  • extensive white spotting (70 - 80% of body surface)
  • white regions showed absence of melanin pigment in coat hair and of melanocytes in the hair bulbs
• nervous system phenotype
• absent enteric neurons (MGI Ref ID J:22207)
  • absence of myenteric ganglion neurons in distal, spastic segment of colon

View Research Applications

Research Applications

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

Edn3^tm1Ywa related

Dermatology Research
Color and White Spotting Defects

Developmental Biology Research
Neural Crest Defects
Neurodevelopmental Defects

Mouse/Human Gene Homologs
Waardenburg-Shah syndrome

Neurobiology Research
Neurodevelopmental Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Edn3tm1Ywa
Allele Name		targeted mutation 1, Masashi Yanagisawa
Allele Type		Targeted (knock-out)
Common Name(s)		edn3;
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		Edn3, endothelin 3
Chromosome		2
Gene Common Name(s)		ET3; MGC15067; MGC61498; RGD1564825; lethal spotting; ls; preproET-3;
Molecular Note		A neomycin cassette was inserted into the middle of exon 2, deleting the mature Edn3-encoding portion of the exon. No mature Edn3 protein was detected by EIA of kidney, brain, or intestine from homozygous mutant mice. [MGI Ref ID J:22207]

Genotyping

Genotyping Information

Genotyping Protocols

NEOTD (Generic Neo), STD PCR, vers. 1

Helpful Links

Optimizing PCR Protocols

References

References

Selected Reference(s)

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]

Additional References

Edn3^tm1Ywa related

Kuwaki T; Ishii T; Ju K; Yanagisawa M; Fukuda Y. 2002. Blood pressure of endothelin-3 null (-/-) knockout mice and endothelin A receptor null (-/-) knockout mice under anaesthesia. Clin Sci (Lond) 103 Suppl 48:48S-52S. [PubMed: 12193053]  [MGI Ref ID J:103149]

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]

Makita T; Sucov HM; Gariepy CE; Yanagisawa M; Ginty DD. 2008. Endothelins are vascular-derived axonal guidance cues for developing sympathetic neurons. Nature 452(7188):759-63. [PubMed: 18401410]  [MGI Ref ID J:133765]

Nakamura A; Kuwaki T; Kuriyama T; Yanagisawa M; Fukuda Y. 2001. Normal ventilation and ventilatory responses to chemical stimuli in juvenile mutant mice deficient in endothelin-3. Respir Physiol 124(1):1-9. [PubMed: 11084198]  [MGI Ref ID J:106265]

Roberts RR; Bornstein JC; Bergner AJ; Young HM. 2008. Disturbances of colonic motility in mouse models of Hirschsprung's disease. Am J Physiol Gastrointest Liver Physiol 294(4):G996-G1008. [PubMed: 18276829]  [MGI Ref ID J:134073]

Health & husbandry

Health & Colony Maintenance Information

Colony Maintenance

Diet Information	LabDiet® 5K52/5K67

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. At least two mice that carry the mutation (if it is a mutant strain) will be provided. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotypes and genders are needed. IMPORTANT NOTE: The genotypes of the 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 for possible genotypes for this specific strain. Animals typically ship within 13 to 16 weeks from your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will typically ship within 25 weeks. 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. 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
	000691 129X1/SvJ	(approximate)
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.

General Terms and Conditions

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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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