|
|
| Nomenclature |
|
Symbol:
|
Pfkmtm1Fbos
|
|
Name:
|
phosphofructokinase, muscle;
targeted mutation 1, Fatima Bosch
|
|
MGI ID: |
MGI:4356541 |
|
Gene:
|
Pfkm
Location:
Chr15:98092589-98132447 bp, + strand
Genetic Position: Chr15,
54.09 cM
|
|
Pfkmtm1Fbos/Pfkmtm1Fbos mice develop skeletal muscle glycogenosis and exercise intolerance
Show the 4 image(s) involving this allele.
|
 |
|
Mutation
origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:152153
|
|
Parent Cell Line:
| CMTI-1 (ES Cell) |
|
Strain of Origin:
|
129S6/SvEvTac
|
|
Mutation
description |
|
Allele
Type: | |
Targeted (knock-out) |
|
Mutations: | |
Insertion, Intragenic deletion |
| |
|
Mutation details: Exon 3 was replaced with a neo cassette. The absence of transcript expression was confirmed by northn blot analysis on muscle extracts. (J:152153)
|
|
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 Pfkm Mutation:
|
2 strains or lines available |
|
| References |
|
Original: |
J:152153
Garcia M et al.,
"Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis."
PLoS Genet 2009 Aug;5(8):e1000615
|
|
All: |
1 reference(s)
|
|
Analysis Tools
