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| Nomenclature |
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Symbol:
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Ednrbtm1Ywa
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Name:
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endothelin receptor type B;
targeted mutation 1, Masashi Yanagisawa
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MGI ID: |
MGI:1857161 |
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Synonyms: |
enrb/enrb |
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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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Mutation
origin |
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Germline Transmission:
| Earliest citation of germline transmission:
J:22206
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Parent Cell Line:
| JH1 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd
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Mutation
description |
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Allele
Type: |
Targeted (knock-out) |
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Mutations: |
Insertion, Intragenic deletion |
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A neomycin resistance cassette replaced a 4.2kb segment of the gene, which contained exon 3. Exon 3 encodes the fourth transmembrane helix of the protein. Functional analysis showed that the allele is null.
(J:22206) |
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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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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Disease
models
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| References |
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Original: |
J:22206
Hosoda K et al.,
"Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice."
Cell 1994 Dec 30;79(7):1267-76
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All: |
5 reference(s)
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