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Cpefat
Spontaneous Allele Detail
Nomenclature
Symbol: Cpefat
Name: carboxypeptidase E; fat
MGI ID: MGI:1856395
Synonyms: fat
Gene: Cpe  Location: Chr8:64592558-64693040 bp, - strand  Genetic Position: Chr8, 32.3 cM
Mutation
origin
Strain of Origin:  HRS/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThe 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)
Inheritance:    Recessive
Phenotypes
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Disease models
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Expression
In Mice Carrying this Mutation: 1 assay results
Find Mice (IMSR)
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 Cpe Mutation:  10 strains or lines available
References
Original:  J:13651 Hummel KP, et al., fat = fat, Chr UN. Mouse News Lett. 1974;50:43
All:  45 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/07/2015
MGI 5.21
The Jackson Laboratory