Primary Identifier | MGI:2683249 | Allele Type | Spontaneous |
Attribute String | Hypomorph | Gene | Pepd |
Inheritance Mode | Recessive | Strain of Origin | CBA/J |
Is Recombinase | false | Is Wild Type | false |
molecularNote | This spontaneous mutation is a 4 base pair deletion of ACTG in exon 14 that is predicted to cause a frameshift after amino acid 409 and replace the 84 carboxy terminal amino acids with 45 novel amino acids. QPCR shows a 42% decrease in expression in homozygous embryonic hearts and prolidase activity is reduced to undetectable levels in adult liver, E15.5 and adult heart, and adult red blood cells. |