Prodh^m1Kara
Spontaneous Allele Detail

Summary

• Symbol: Prodh^m1Kara
• Name: proline dehydrogenase; mutation 1, Maria Karayiorgou
• MGI ID: MGI:2446517
• Synonyms: Prodh^-
• Gene: Prodh Location: Chr16:17889593-17907147 bp, - strand Genetic Position: Chr16, 11.19 cM
• Alliance: Prodh^m1Kara page

Mutation origin

• Strain of Origin: PRO/ReJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A G-to-T transversion results in a nonsense mutation at glutamic acid codon 555 (ENSMUSP00000003620 p.E555*) in a conserved carboxy terminal region 135 bp upstream of the native stop codon. The presence of the mutation has been correlated with increased proline levels and is believed to be responsible for hyperprolinaemia observed in the Pro/Re strain. Full length transcript was identified by Northern blot analysis. (J:54012)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Prodh Mutation: 28 strains or lines available

References

• Original: J:54012 Gogos JA, et al., The gene encoding proline dehydrogenase modulates sensorimotor gating in mice. Nat Genet. 1999 Apr;21(4):434-9
• All: 7 reference(s)