Pepd^dal
Spontaneous Allele Detail

Summary

• Symbol: Pepd^dal
• Name: peptidase D; dark-like
• MGI ID: MGI:2683249
• Gene: Pepd Location: Chr7:34611832-34744131 bp, + strand Genetic Position: Chr7, 20.7 cM
• Alliance: Pepd^dal page

8 day old Pepd^dal/Pepd^dal

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: CBA/J

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Intragenic deletion
• Mutation details: 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. (J:215150)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

14 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Pepd Mutation: 37 strains or lines available

References

• Original: J:87005 Harris BS, et al., A new recessive coat color mutation on mouse Chromosome 7, dark-like. Mouse Mutant Resources Web Site, The Jackson Laboratory, Bar Harbor, Maine. MGI Direct Data Submission. 2003
• All: 5 reference(s)