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| Nomenclature |
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Symbol:
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Cpefat
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Name:
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carboxypeptidase E;
fat
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MGI ID: |
MGI:1856395 |
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Synonyms: |
fat |
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Gene:
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Cpe
Location:
Chr8:64592558-64693040 bp, - strand
Genetic Position: Chr8,
32.3 cM
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Mutation
origin |
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: The molecular mutation responsible for the phenotype in the fat mouse is a T to C transition at nucleotide 729 of the mRNA. The codon of this nucleotide corresponds to amino acid 244 of the unprocessed preproenzyme or amino acid 202 of the mature peptidase. The mutation is predicted to alter a conserved serine to a proline residue in the encoded protein. Enzymatic activity of the mutant protein was shown to be abolished in fluorometric assays in vitro. (J:24436)
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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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| References |
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Analysis Tools
