Overview

Also Known As:dsg-

These Sgcd knock-out mice exhibit early mortality with elevated creatine kinase serum levels and muscle degeneration.

Donating Investigator

Elizabeth McNally, University of Chicago

Genetic overview

Genetic Background	Generation

Sgcd^tm1Mcn

Allele Type	Gene Symbol	Gene Name
Targeted (Null/Knockout)	Sgcd	sarcoglycan, delta (dystrophin-associated glycoprotein)

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Research Applications

Neurobiology Research
Mouse/Human Gene Homologs
Cardiovascular Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

Sarcoglycan, delta (dystrophin-associated glycoprotein)(Sgcd) is a multimeric, integral membrane glycoprotein complex that associates with dystrophin and has been associated with inherited forms of muscular dystrophy. Mice that are homozygous for the Sgcd knock-out allele (also known as dsg-) are viable, fertile, and normal in size at weaning age. However, at 8 weeks of age there is an onset of sudden mortality, with a 50% survival rate at 28 weeks. No gene product (protein) is immunodetected in skeletal muscle microsomal preparations. Elevated creatine kinase serum levels are indicative of striated muscle degeneration. Histopathology of skeletal muscle tissue reveals degeneration and regeneration of muscle fibers, inflammatory infiltrate, perivascular fibrosis and calcification. At 12 weeks of age, cardiac muscle tissue also begins to show degeneration, inflammatory infiltration and perivascular fibrosis. Myofiber membranes have permeability defects as assessed by Evans blue dye uptake into myofiber cytoplasm. Skeletal muscle of mutant mice have an enhanced sensitivity to mechanically induced sarcolemmal damage. This mutant mouse strain may be useful in studies of limb girdle muscular dystrophy and cardiomyopathy.

Development

A targeting vector containing neomycin resistance and herpes simplex virus thymidine kinase genes was used to disrupt exon 2, which encodes the initiation site, cytoplasmic domain and transmembrane domain. The construct was electroporated into 129 derived R1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts. The resulting chimeric male animals were crossed to 129T2/SvEmsJ (Stock No. 002065) mice and then backcrossed to C57BL/6 for more than 10 generations before males were sent to The Jackson Laboratory in 2003. Upon arrival, sperm was cryopreserved. To establish our live colony, an aliquot of frozen sperm was used to fertilize C57BL/6J oocytes (Stock No. 000664).

Control Suggestions

Wild-type from the colony

Approximate Controls

000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Selected References

Hack AA; Lam MY; Cordier L; Shoturma DI; Ly CT; Hadhazy MA; Hadhazy MR; Sweeney HL; McNally EM. 2000. Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex. J Cell Sci 113(Pt 14):2535-44PubMed: 10862711 MGI: J:76730

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Genetics

Sgcd^tm1Mcn

Allele Symbol: Sgcd^tm1Mcn

Allele Name	targeted mutation 1, Elizabeth M McNally
Allele Type	Targeted (Null/Knockout)
Allele Synonym(s)	dsg^-; Scgd^-
Gene Symbol and Name	Sgcd, sarcoglycan, delta (dystrophin-associated glycoprotein)
Gene Synonym(s)
Strain of Origin	(129X1/SvJ x 129S1/Sv)F1-Kitl⁺
Chromosome	11
Molecular Note	A neomycin selection cassette was used to replace exon 2, which encodes the translation initiation codon and the cytoplasmic and transmembrane domains. Northern analysis showed that message was not transcribed in skeletal muscle of homozygous mutant mice. The lack of protein in immunoblots further confirmed complete inactivation.
Mutations Made By	Elizabeth McNally, University of Chicago

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Research Areas By Phenotype

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

Neurobiology Research
- Muscular Dystrophy
  - Limb-Girdle type

Genotype: Sgcd^tm1Mcn related

Mouse/Human Gene Homologs
- muscular dystrophy, limb-girdle
  - type 2F
Cardiovascular Research
- Heart Abnormalities
  - cardiomyopathy

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Sgcd^tm1Mcn/Sgcd^tm1Mcn
involves: 129S1/Sv * 129T2/SvEmsJ * 129X1/SvJ

cardiovascular system phenotype

cardiomyopathy
- beginning at 12 weeks of age, observe signs of cardiac muscle degeneration as indicated by areas of cell death and inflammatory infiltrate

perivascular fibrosis
- frequent occurrence of perivascular fibrosis

homeostasis/metabolism phenotype

increased circulating creatine kinase level
- elevation in serum creatine kinase levels

mortality/aging

premature death
- beginning at 8 weeks of age, begin to die suddenly
- premature mortality is also noted at 12, 16, and 28 weeks of age, with a 50% survival rate at 28 weeks of age

muscle phenotype

abnormal muscle contractility
- show a 42% drop in force generation over a five eccentric contraction protocol, however twich and tetanic force generation is normal

abnormal muscle physiology
- muscles exhibit pronounced Evans blue dye uptake, indicating alterations in membrane permeability of muscles

cardiomyopathy
- beginning at 12 weeks of age, observe signs of cardiac muscle degeneration as indicated by areas of cell death and inflammatory infiltrate

dystrophic muscle
- all skeletal muscles show dystrophic changes
- regional degeneration and regeneration of muscle fibers is common and accompanied by an inflammatory infiltrate

muscle degeneration
- skeletal and cardiac muscle degeneration

The following phenotype relates to a compound genotype created using this strain

Genotype: Sgcd^tm1Mcn/Sgcd^tm1Mcn
B6.129-Sgcd/J

cardiovascular system phenotype

cardiac fibrosis

cardiac muscle degeneration
- cardiac cell degeneration

cardiac muscle necrosis

decreased cardiac muscle contractility
- heart function is reduced with mice showing reduced fractional shortening

dilated cardiomyopathy
- 14 week old mice develop signs of mild cardiomyopathy with patchy areas of fibrosis and necrosis

cellular phenotype

cardiac muscle necrosis

muscle phenotype

cardiac muscle degeneration
- cardiac cell degeneration

cardiac muscle necrosis

decreased cardiac muscle contractility
- heart function is reduced with mice showing reduced fractional shortening

dilated cardiomyopathy
- 14 week old mice develop signs of mild cardiomyopathy with patchy areas of fibrosis and necrosis

References

Hack AA; Lam MY; Cordier L; Shoturma DI; Ly CT; Hadhazy MA; Hadhazy MR; Sweeney HL; McNally EM. 2000. Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex. J Cell Sci 113(Pt 14):2535-44PubMed: 10862711 MGI: J:76730

Additional References

Verhaart IEC; Putker K; van de Vijver D; Tanganyika-de Winter CL; Pasteuning-Vuhman S; Plomp JJ; Aartsma-Rus AM; van Putten M. 2019. Cross-sectional study into age-related pathology of mouse models for limb girdle muscular dystrophy types 2D and 2F. PLoS One 14(8):e0220665PubMed: 31430305 MGI: J:278864

Additional - Sgcd^tm1Mcn related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Standard PCR:Sgcd
- Genotyping resources and troubleshooting
Breeding Considerations

Both heterozygous and homozygous mice are viable and fertile, however, at 8 weeks of age homozygotes exhibit an onset of sudden mortality, with a 50% survival rate at 28 weeks.
- Additional Breeding and Husbandry Support
Citation
When using the dsg- mouse strain in a publication, please cite the originating article(s) and include JAX stock #004582 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Heterozygous or Wild-type for Sgcd<tm1Mcn>

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Additional Use Restrictions Apply

Use of MICE by companies or for-profit entities requires a license prior to shipping.

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

JAX® Mice, Products & Services Conditions of Use

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Also Known As:dsg-

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Approximate Controls

Additional Information

Selected References

Sgcdtm1Mcn

Allele Symbol: Sgcdtm1Mcn

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Research Areas By Phenotype

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

Genotype: Sgcdtm1Mcn related

Mammalian Phenotype Terms by Genotype

Genotype: Sgcdtm1Mcn/Sgcdtm1Mcninvolves: 129S1/Sv * 129T2/SvEmsJ * 129X1/SvJ

cardiovascular system phenotype

homeostasis/metabolism phenotype

mortality/aging

muscle phenotype

Genotype: Sgcdtm1Mcn/Sgcdtm1McnB6.129-Sgcd/J

cardiovascular system phenotype

cellular phenotype

muscle phenotype

References

Additional References

Additional - Sgcdtm1Mcn related

Genotyping Protocols

Breeding Considerations

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Additional Use Restrictions Apply

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Sgcd^tm1Mcn

Allele Symbol: Sgcd^tm1Mcn

Genotype: Sgcd^tm1Mcn related

Genotype: Sgcd^tm1Mcn/Sgcd^tm1Mcn
involves: 129S1/Sv * 129T2/SvEmsJ * 129X1/SvJ

Genotype: Sgcd^tm1Mcn/Sgcd^tm1Mcn
B6.129-Sgcd/J

Additional - Sgcd^tm1Mcn related