These mice carry a floxed allele of Fktn (fukutin). When crossed with a Cre strain, tissue-specific knockouts of the gene can be generated. Crosses with Myf5 (myogenic factor 5) and Ckm (creatine kinase, muscle) Cre strains generate dystroglycanopathy mice representative of a spectrum of mild to severe patient diseases.
Kevin Campbell, University of Iowa
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Targeted (Conditional ready (e.g. floxed), No functional change) | Fktn | fukutin |
Fktn (fukutin) is one of several genes that are required for dystoglycan processing. Deficiencies in dystroglycan are associated with an array of congenital and limb girdle muscular dystrophies (dystroglycanopathies).
These mice carry a floxed allele of Fktn. Homozygotes are born at reduced Mendelian frequencies and have reduced fertility. Viable animals have an overtly normal phenotype. Dystroglycan is properly glycosylated in all tissues tested.
When crossed with a Cre strain, tissue-specific or inducible knockouts of the gene can be generated. Crosses with Myf5 (myogenic factor 5) (Stock No. 007893) and Ckm (creatine kinase, muscle) (Stock No. 006405) Cre strains generate dystroglycanopathy mice representative of a spectrum of mild to severe patient diseases. Conditional disruption during muscle development at E8 causes a more severe phenotype than knockouts initiated at E17. A corresponding deficiency of functionally glycosylated dystroglycan along with dystrophic histopathology supports a role for dystroglycan in muscle development or differentiation.
A floxed region encoding a FRT-flanked PGK-neomycin cassette followed by exon 2 was introduced to 129/SvE-derived embryonic stem (ES) cells. This strain was backcrossed to C57BL/6J for 4 generations by the donating lab.
Allele Name | targeted mutation 1, Kevin P Campbell |
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Allele Type | Targeted (Conditional ready (e.g. floxed), No functional change) |
Allele Synonym(s) | |
Gene Symbol and Name | Fktn, fukutin |
Gene Synonym(s) | |
Strain of Origin | 129S/SvEv |
Chromosome | 4 |
Molecular Note | A loxP site and an FRT flanked neo selection cassette were inserted upstream of exon 2 while a second loxP site was inserted downstream. |
Mutations Made By | Kevin Campbell, University of Iowa |
Floxed heterozygotes are viable and fertile. Homozygotes have reduced fertility and are born at reduced Mendelian frequencies.
When using the B6.129-Fktntm1Kcam/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #019097 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildtype for Fktn<tm1Kcam> |
Frozen Mouse Embryo | B6.129-Fktn<tm1Kcam>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.129-Fktn<tm1Kcam>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.129-Fktn<tm1Kcam>/J Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | B6.129-Fktn<tm1Kcam>/J Frozen Embryo | $3373.50 |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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