About   Help   FAQ
Pfkmtm1Fbos
Targeted Allele Detail
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 phenotype 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 (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExon 3 was replaced with a neo cassette. The absence of transcript expression was confirmed by northn blot analysis on muscle extracts. (J:152153)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 7 anatomical structures
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:  19 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/12/2018
MGI 6.12
The Jackson Laboratory