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| Nomenclature |
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Symbol:
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Ednrbs-l
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Name:
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endothelin receptor type B;
piebald lethal
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MGI ID: |
MGI:1856149 |
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Synonyms: |
sl |
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Gene:
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Ednrb
Location:
Chr14:104213843-104242913 bp, - strand
Genetic Position: Chr14,
51.0 cM
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Ednrbs-l/Ednrbs-l
Show the 2 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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(C3H/HeJ x C57BL/6)F2
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Mutation
description |
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Allele
Type: |
Spontaneous |
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Mutation: |
Deletion |
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Southern 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) |
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Inheritance: |
Recessive |
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| Expression |
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Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
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Key:
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| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
 |
expected model not found |
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Phenotypic
data by
genotype
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Phenotypic Data by Genotype
(show or
hide all phenotypic details)
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| Genotype | Allelic Composition | Genetic Background |
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  hm1
Disease Model |
Ednrbs-l/Ednrbs-l |
involves: C3H/HeJ * C57BL/6 |
lethality/postnatal pigmentation skin/coat/nails digestive/alimentary system nervous system |
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Disease
models
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Notes |
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).
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| References |
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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
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All: |
16 reference(s)
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