|
|
| Nomenclature |
|
Symbol:
|
Prodhm1Kara
|
|
Name:
|
proline dehydrogenase;
mutation 1, Maria Karayiorgou
|
|
MGI ID: |
MGI:2446517 |
|
Synonyms: |
Prodh- |
|
Gene:
|
Prodh
Location:
Chr16:18060357-18090203 bp, - strand
Genetic Position: Chr16,
11.19 cM
|
|
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 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)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| 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:
|
2 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: |
6 reference(s)
|
|
Analysis Tools
