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Spontaneous Allele Detail
Symbol: Ednrbs-l
Name: endothelin receptor type B; piebald lethal
MGI ID: MGI:1856149
Synonyms: sl
Gene: Ednrb  Location: Chr14:103814625-103844173 bp, - strand  Genetic Position: Chr14, 53.05 cM

Show the 2 phenotype image(s) involving this allele.

Strain of Origin:  (C3H/HeJ x C57BL/6)F2
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
Mutation detailsSouthern blotting revealed that all of the coding exons of the gene were deleted. In addition, the transcript was undetectable by northern blotting in homozygous mice. (J:22206)
Inheritance:    Recessive
View phenotypes for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 1 assay results
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Ednrb Mutation:  57 strains or lines available
This mutation was found in the F2 generation of a cross between C3H/HeJ and C57BL/6J. Homozygotes are almost completely white with dark eyes and with only an occasional small pigmented spot on the head or rump. Ednrbs/Ednrbs-l mice resemble Ednrbs homozygotes in degree of spotting (J:5008). The piebald-lethal mutation acts prior to the onset of expression of the Dct locus (site of the mouse coat color mutation slaty) at 10.5 days post coitum, and disrupts development of melanocytes derived from the neural crest (J:19441). All Ednrbs-l homozygotes develop megacolon with lack of enteric ganglion cells in the posterior end of the colon. They usually die at about 2 weeks of age, but some may live a year or more and may breed (J:5008). Functional studies of the colon and rectum have shown that inhibitory cholinergic innervation is absent in these mice (J:7859, J:6666). Enteric ganglion cells in normal embryos enter the gut by way of the vagal outgrowth at 10 days of gestation and migrate down the gut. In homozygous piebald-lethal embryos migration is slower and does not keep up with elongation of the gut, so that although the neuroblasts migrate 6 to 7 days longer, they never reach the end of the gut (J:5407). In homozygous piebald-lethal mice the neural epithelium of the inner ear is abnormal, probably as a result of defects in the part of the acoustic ganglion derived from the neural crest (J:5048).

Original:  J:5008 Lane PW, Association of megacolon with two recessive spotting genes in the mouse. J Hered. 1966 Jan-Feb;57(1):29-31
All:  17 reference(s)

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MGI 5.21
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