Cpe^fat
Spontaneous Allele Detail

Summary

• Symbol: Cpe^fat
• Name: carboxypeptidase E; fat
• MGI ID: MGI:1856395
• Synonyms: fat
• Gene: Cpe Location: Chr8:65045576-65146088 bp, - strand Genetic Position: Chr8, 32.3 cM
• Alliance: Cpe^fat page

Mutation origin

• Strain of Origin: HRS/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: The 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

Disease models

Expression

In Mice Carrying this Mutation:	13 assay results
In Structures Affected by this Mutation:	5 anatomical structure(s)

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: 27 strains or lines available

References

• Original: J:13651 Hummel KP, et al., fat = fat, Chr UN. Mouse News Lett. 1974;50:43
• All: 52 reference(s)