|
|
| Nomenclature |
|
Symbol:
|
Spg20tm1.1Xen
|
|
Name:
|
spastic paraplegia 20, spartin (Troyer syndrome) homolog (human);
targeted mutation 1.1, Taconic Biosciences
|
|
MGI ID: |
MGI:5430946 |
|
Gene:
|
Spg20
Location:
Chr3:55112108-55137322 bp, + strand
Genetic Position: Chr3,
26.53 cM
|
|
Mutation origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:185987
|
|
Parent Cell Line:
| Not Specified (ES Cell) |
|
Strain of Origin:
|
Not Specified
|
|
Mutation description |
|
Allele
Type: | |
Targeted (knock-out) |
|
Mutations: | |
Insertion, Intragenic deletion |
| |
|
Mutation details: Most of exon 2 and all of exons 3 through 5 were replaced with a luciferase reporter and a floxed neo cassette. Cre-mediated recombination removed the neo cassette. Western blot analysis confirmed the absence of protein expression in the brain, spinal cord and testis. (J:185987)
|
|
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 Spg20 Mutation:
|
5 strains or lines available |
|
| References |
|
Original: |
J:185987
Renvoise B et al.,
"Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling."
Hum Mol Genet 2012 Aug 15;21(16):3604-18
|
|
All: |
1 reference(s)
|
|