Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Congenic; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Generation N10pN1 Generation Definitions   Donating Investigator Kevin Campbell,   University of Iowa

Description
Mice homozygous for this targeted mutation are viable and fertile. A loxP-flanked neomycin resistance cassette blocks expression of a His77Cys (H77C) missense mutation introduced into exon 3 of the gene. Alpha-sarcoglycan mRNA is not detected by RT-PCR, and protein is not detected by Western blot or immunofluorescence staining of skeletal muscle. The mice develop progressive muscular dystrophy as early as six weeks of age with typical pathological changes in skeletal muscle and an elevation of serum creatine kinase activity.

After germline- or striated muscle-specific Cre-mediated excision of the floxed neomycin cassette, the H77C missense mutation is expressed in the sarcolemma of striated muscles, and homozygotes do not show any sign of muscular dystrophy as late as 88 weeks of age.

For example, when crossed to a strain expressing Cre recombinase in skeletal and cardiac muscle (see Stock No. 006475), this mutant mouse strain may be useful in muscular dystrophy research.

Development
A targeting vector was designed to introduce an H77C (TGC->CAC) missense substitution in exon 3, and place a loxP-flanked pgk-neomycin resistance cassette (in opposite transcriptional orientation) into intron 3 of the gene. The targeting vector was electroporated into 129S6/SvEvTac-derived W4 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts, and chimeric mice were obtained. The line was backcrossed to C57BL/6 for five generations by the donating laboratory.

Control Information

	Control
	000664 C57BL/6J
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Sgca

009651

B6.Cg-Sgcatm1Kcam Tg(Ckm-SGCE)1Kcam/J

View Strains carrying other alleles of Sgca     (1 strain)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Sgca^tm2Kcam/Sgca^tm2Kcam

        either: (129S6/SvEvTac-Sgca^tm2Kcam) or (involves: 129S6/SvEvTac * C57BL/6J)

• muscle phenotype
• abnormal muscle contractility   (MGI Ref ID J:130252)
• abnormal muscle fiber morphology
  • skeletal muscle shows fiber size variation, fiber degeneration and regeneration, and centrally located nuclei, characteristic of muscular dystrophy   (MGI Ref ID J:130252)
  • phenotype is stated to be identical to that of Sgca^tm1Kcam homozygotes; however no data are presented   (MGI Ref ID J:130252)
• • abnormal sarcolemma morphology
    • membrane damage is exhibited in quadriceps muscles as shown by uptake of Evans blue dye into fibers between 3 and 12 months   (MGI Ref ID J:130252)
• calcified muscle   (MGI Ref ID J:130252)
• dystrophic muscle
  • mice develop muscular dystrophy essentially identical to that show by Sgca^tm1Kcam homozygotes   (MGI Ref ID J:130252)
• increased muscle weight   (MGI Ref ID J:130252)
• homeostasis/metabolism phenotype
• increased circulating creatine kinase level
  • at 10-12 weeks, mutants show significantly elevated basal levels of creatine kinase in the blood, relative to wild-type; exercise-induced mechanical stress of the sarcolemmal membrane resulted in a further 3-fold increase in creatine kinase in serum   (MGI Ref ID J:130252)

The following phenotype relates to a compound genotype created using this strain.
Contact JAX^® Services jaxservices@jax.org for customized breeding options.

Sgca^tm2Kcam/Sgca^tm2Kcam Tg(Ckmm-cre)5Khn/0

        either: (involves: 129S4/SvJae * 129S6/SvEvTac * FVB) or (involves: 129S6/SvEvTac * C57BL/6J * FVB)   (conditional)

• muscle phenotype
• *normal* muscle phenotype
  • conditional mutants fail to develop muscular dystrophy pathology; striated and cardiac muscle show expression of mutant alpha-sarcoglycan, as well as sarcospan   (MGI Ref ID J:130252)
  • percentage of fibers with centrally located nuclei are normalized to levels of heterozygous non-transgenic controls   (MGI Ref ID J:130252)
• homeostasis/metabolism phenotype
• *normal* homeostasis/metabolism phenotype
  • serum creatine kinase levels are normalized   (MGI Ref ID J:130252)

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Mouse/Human Gene Homologs
muscular dystrophy, limb-girdle

Neurobiology Research
Neuromuscular Defects

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Sgcatm2Kcam
Allele Name		targeted mutation 2, Kevin P Campbell
Allele Type		Targeted (Floxed/Frt)
Mutation Made By		Kevin Campbell,   University of Iowa
Strain of Origin		129S6/SvEvTac
ES Cell Line Name		W4
ES Cell Line Strain		129S6/SvEvTac
Gene Symbol and Name		Sgca, sarcoglycan, alpha (dystrophin-associated glycoprotein)
Chromosome		11
Gene Common Name(s)		50-DAG; 50DAG; A2; ADL; Asg; DAG2; DMDA2; LGMD2D; SCARMD1; adhalin;
Molecular Note		A targeting vector was designed to introduce an H77C (TGC->CAC) missense substitution in exon 3, and place a loxP-flanked pgk-neomycin resistance cassette (in opposite transcriptional orientation) into intron 3 of the gene. Alpha-sarcoglycan mRNA is not detected by RT-PCR, and protein is not detected by Western blot or immunofluorescence staining of skeletal muscle. [MGI Ref ID J:130252]

Genotyping

Genotyping Information

Genotyping Protocols

Sgca^tm2Kcam, Standard PCR
Sgca^tm2Kcam, Standard PCR

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Kobuke K; Piccolo F; Garringer KW; Moore SA; Sweezer E; Yang B; Campbell KP. 2008. A Common Disease-Associated Missense Mutation in Alpha-Sarcoglycan Fails to Cause Muscular Dystrophy in Mice. Hum Mol Genet :. [PubMed: 18252746]  [MGI Ref ID J:130252]

Health & husbandry

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, RG10/RG30.

Colony Maintenance

Breeding & Husbandry	When maintained as a live colony, homozygotes may be bred.

Purchasing information

Pricing, Supply Level & Notes, Controls

General Supply Notes

• This strain is included in the Induced Mutant Resource Colony collection.

Control Information

	Control
	000664 C57BL/6J
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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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.

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