Strain Name: |
129-Dysftm1Kcam/J |
|---|---|
Stock Number: |
006830 |
Availability: | Repository- Live |
General Terms and Conditions |
| Strain Common Names | AT658 129; |
| Genes & Alleles | Dysf; Dysftm1Kcam; |
Product Information
Strain Details
Type JAX® GEMM® Strain - Mutant Stock Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Targeted Mutation Mating System Homozygote x Homozygote (Female x Male) Species laboratory mouse Donating Investigator Kevin Campbell, University of Iowa Generation ?+N1F3 (10-APR-08) Strain Description
Mice homozygous for this targeted mutation are viable, fertile and show a normal growth rate. Mice develop a slowly progressive muscular dystrophy. By the age of 2 months, a few individual necrotic and centrally nucleated fibers can be detected throughout the muscle; the number increases with age. By 8 months, the muscle develops all of the pathological characteristics of muscular dystrophy (e.g. regenerating fibers, split fibers, muscle necrosis with macrophage infiltration and fat replacement). The severity of the pathology varies in different muscles. Muscle fibers are defective in Ca2+-dependent sarcolemma resealing/repair. No protein product from the targeted gene is detected in skeletal muscle microsomes. This mutant mouse strain represents a model that may be useful in studies of muscle disease and repair.Strain Development
A targeting vector containing a neomycin resistance gene was use to replace a 12 kb region containing the last three coding exons of the gene, including the exons coding for the transmembrane domain. The construct was electroporated into (129X1/SvJ x 129S1/Sv)F1-Kitl+-derived R1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into blastocysts.
Mammalian Phenotype Terms assigned by genotype |
Gene & Allele Details
| Allele Symbol | Dysftm1Kcam | ||
|---|---|---|---|
| Allele Name | targeted mutation 1, Kevin P Campbell | ||
| Mutation Made By | Kevin Campbell, University of Iowa | ||
| Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl+ | ||
| ES Cell Line Name | R1 | ||
| ES Cell Line Strain | (129X1/SvJ x 129S1/Sv)F1-Kitl<+> | ||
| Gene Symbol and Name | Dysf, dysferlin | ||
| Chromosome | 6 | ||
| Gene Common Name(s) | 2310004N10Rik; AI604795; D6Pas3; DNA segment, Chr 6, Pasteur Institute 3; FER1L1; FLJ00175; FLJ90168; LGMD2B; RIKEN cDNA 2310004N10 gene; expressed sequence AI604795; | ||
| Molecular Note | 12 kb of sequences at the 3' end of the gene were replaced with a neomycin resistance cassette via homologous recombination. The gene targeting event results in deletion of the last 3 coding exons including the transmembrane domain. Absence of gene expression in homozygous mutant animals was confirmed by Western blot analysis of skeletal muscle microsomes. [MGI Ref ID J:83126] | ||
Control Information
| Control | ||
|---|---|---|
| 002448 129S1/SvImJ | (approximate) | |
| Considerations for Choosing Controls | ||
Genotyping Protocols
Dysftm1Kcam
Generic Neo QPCR
Colony Maintenance
| Diet Information | LabDiet® 5K52/5K67 |
|---|
Related Strains
View Strains carrying other alleles of Dysf (2 strains)
Strains carrying other alleles of Dysf Animal Health Reports
Room Number AX11
Research Applications
This mouse can be used to support research in many areas including:
Neurobiology Research
Neuromuscular Defects
References
Selected Reference(s)
Additional ReferencesBansal D; Miyake K; Vogel SS; Groh S; Chen CC; Williamson R; McNeil PL; Campbell KP. 2003. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 423(6936):168-72. [PubMed: 12736685] [MGI Ref ID J:83126]
Price and Supply Information
| Strain Name: | 129-Dysftm1Kcam/J |
| Stock Number: | 006830 |
Price Details
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Supply Details
| Standard Supply | Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement. |
|---|---|
| Supply Notes |
Usually shipped between four and eight weeks of age. This strain is included in the Induced Mutant Resource Colony collection. |
| Licensing | See General Terms and Conditions below for Licensing and Use Restrictions |
| Control Information | View Control Information in Strain Details. |
General Terms and Conditions
View JAX® Mice & Services Conditions of Use.
For additional Licensing and Use Restrictions view the link(s) below:
- Use of MICE by companies or for-profit entities requires a license prior to shipping.
The Jackson Laboratory's Genotype Promise
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.Ordering and Purchasing Information
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