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Spontaneous Allele Detail
Symbol: Cpefat
Name: carboxypeptidase E; fat
MGI ID: MGI:1856395
Synonyms: fat
Gene: Cpe  Location: Chr8:64592542-64693054 bp, - strand  Genetic Position: Chr8, 32.3 cM
Strain of Origin:  HRS/J
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 coding nucleotide 730 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 alters a conserved serine to a proline residue in the encoded protein (p.S244P). Enzymatic activity of the mutant protein was shown to be abolished in fluorometric assays in vitro. (J:24436)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 13 assay results
In Structures Affected by this Mutation: 5 anatomical structures
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
Original:  J:13651 Hummel KP, et al., fat = fat, Chr UN. Mouse News Lett. 1974;50:43
All:  51 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.16
The Jackson Laboratory