|
|
| Nomenclature |
|
Symbol:
|
Plp1tm1Frca
|
|
Name:
|
proteolipid protein (myelin) 1;
targeted mutation 1 Franca Cambi
|
|
MGI ID: |
MGI:3828298 |
|
Synonyms: |
PLP-ISEdel |
|
Gene:
|
Plp1
Location:
ChrX:136822671-136839733 bp, + strand
Genetic Position: ChrX,
59.1 cM, cytoband F1-F2
|
|
Mutation
origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:143305
|
|
Parent Cell Line:
| R1 (ES Cell) |
|
Strain of Origin:
|
(129X1/SvJ x 129S1/Sv)F1-Kitl+
|
|
Mutation
description |
|
Allele
Type: | |
Targeted (other) |
|
Mutation: | |
Intragenic deletion |
| |
|
Mutation details: Using a 'hit and run' strategy 19 bp in intron 3 were deleted. This region is critical for the production of the Plp1 isoform, and its deletion results in decreased transcript expression of the Plp1 isofom relative to the DM20 isoform as confirmed by RT-PCR on brain extracts. (J:143305)
|
|
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 Plp1 Mutation:
|
10 strains or lines available |
|
| References |
|
Original: |
J:143305
Wang E et al.,
"Deletion of a splicing enhancer disrupts PLP1/DM20 ratio and myelin stability."
Exp Neurol 2008 Dec;214(2):322-30
|
|
All: |
1 reference(s)
|
|
Analysis Tools
