CAST.HRS(BKS)-Cpe^fat/Jng

Stock number: 003774
Research areas: Diabetes and Obesity Research, Endocrine Deficiency Research, Internal/Organ Research, Metabolism Research, Reproductive Biology Research

Description

This strain has been discontinued. Search for other strains with the Cpe^fat mutation.

Detailed description

Homozygous Cpe^fat/Cpe^fat on this background often die in utero or do not live more than a few weeks.

Allele

Symbol: Cpe^fat
Name: fat
MGI accession ID: MGI:1856395
Generation method: Spontaneous
Marker symbol: Cpe
Marker name: carboxypeptidase E
Chromosome: 8
Strain of origin: HRS/J
Molecular note: 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.