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 Generation Definitions   Donating Investigator Dr. 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 provided by MGI

- 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, 4; HSCR4
Waardenburg Syndrome, Type 4b; WS4B

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Central Hypoventilation Syndrome, Congenital; CCHS   (EDN3)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Edn3^tm1Ywa/Edn3^tm1Ywa

        involves: 129S7/SvEvBrd

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

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 provided by MGI

Allele Symbol		Edn3tm1Ywa
Allele Name		targeted mutation 1, Masashi Yanagisawa
Allele Type		Targeted (knock-out)
Common Name(s)		edn3;
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		Edn3, endothelin 3
Chromosome		2
Gene Common Name(s)		114-CH19; 114CH19; ET-3; ET3; HSCR4; PPET3; RGD1564825; Tennessee Mouse Genome Consortium 48; WS4B; lethal spotting; ls; preproET-3; tmgc48;
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

Edn3^tm1Ywa, Standard PCR

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

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

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Colony Maintenance

Diet Information	LabDiet® 5K52/5K67

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

Control Information

	Control
	Wild-type from the colony
	000691 129X1/SvJ	(approximate)
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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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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