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| Nomenclature |
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Symbol:
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Edn3tmgc48
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Name:
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endothelin 3;
Tennessee Mouse Genome Consortium 48
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MGI ID: |
MGI:3589247 |
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Synonyms: |
114CH19, 114-CH19 |
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Gene:
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Edn3
Location:
Chr2:174760619-174784042 bp, + strand
Genetic Position: Chr2,
98.1 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6-19PWK
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: This phenotypic mutant was identified in an ENU mutagenesis screen. ENU mutagenesis induced a G to A transition that resulted in an amino acid substitution of histidine for arginine at position 96 (R96H). This transistion disrupts the furin-mediated proteolytic cleavage of pro-endothelin necessary to form the biologically active protein. (J:137432)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Edn3 Mutation:
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5 strains or lines available |
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| References |
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Original: |
J:92490
The Tennessee Mouse Genome Consortium,
"Targeted mutagenesis of the mouse genome and neural phenotypes"
MGI Direct Data Submission 2004-6;():
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All: |
2 reference(s)
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Analysis Tools
