Overview

This s100 GFP SMA delta 7 mutant mouse strain may be useful in studies for visualization and vital imaging of neuromuscular junction Schwann cells in the etiology and pathology of Spinal Muscular Atrophy.

Donating Investigator

Wesley Thompson, University of Texas

Genetic overview

Genetic Background	Generation

Smn1^tm1Msd

Allele Type	Gene Symbol	Gene Name
Targeted (Reporter, Null/Knockout)	Smn1	survival motor neuron 1

Grm7^{Tg(SMN2)89Ahmb}

Allele Type
Transgenic (Hypomorph, Inserted expressed sequence, Humanized sequence)

Tg(SMN2*delta7)4299Ahmb

Allele Type
Transgenic (Inserted expressed sequence, Humanized sequence)

Tg(S100B-EGFP)1Wjt

Allele Type
Transgenic (Reporter)

View Genetics

Research Applications

Research Tools
Neurobiology Research

View All Research Applications

Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

Mice that are homozygous for the targeted mutant Smn allele and homozygous for the Tg(SMN2*delta7)4299Ahmb and Tg(SMN2)89Ahmb transgenes exhibit symptoms and neuropathology similar to patients afflicted with proximal spinal muscular atrophy (SMA). At birth, triple mutants are noticeably smaller than normal littermates. By day 5, signs of muscle weakness are apparent and become progressively more pronounced over the following week as the mice display an abnormal gait, shakiness in the hind limbs and a tendency to fall over. Mean survival is approximately 13 days. Immunocytochemical analysis indicates that dystrophin expression is normal, however fibers isolated from the gastrocnemius muscle of a 14 day old triple mutant clearly show evidence of atrophy.
These transgenic mice also express Enhanced Green Fluorescent Protein (EGFP) under the direction of the human S100 calcium-binding protein, beta (neural) promoter. Fluorescence is detected in Schwann cells at the neuromuscular junction.
EGFP expression is detected at birth and fluorescence is also detected in Schwann cells of the sternomastoid, soleus, extensor digitorum longus, triangularis sterni and diaphragm muscles, some astrocytes, Bergmann glia and a few muscle macrophages. Presence of the Tg(S100B-EGFP)1Wjt transgene does not change the phenotype.

Development

This strain was generated by crossing Stock No. 005025 and
Stock No. 005621 mice.
The mice were then crossed to Stock No. 005025 mice for 11 generations.

Expression Data

Expressed Gene	lacZ, beta-galactosidase, E. coli
Site of Expression	The expression of the lacZ gene in tissues where Smn is normally expressed was noted.
Expressed Gene	SMN2, survival of motor neuron 2, centromeric, human
Site of Expression	Human SMN2 protein is expressed in the tissues examined (brain, liver, spinal cord) [Stock No. 005024].
Expressed Gene	SMN2, survival of motor neuron 2, centromeric, human
Site of Expression	Tg(SMN2*delta7)4299Ahmb
Expressed Gene	GFP, Green Fluorescent Protein,
Site of Expression	Schwann cells of the sternomastoid, soleus, extensor digitorum longus, triangularis sterni and diaphragm muscles, some astrocytes, Bergmann glia and a few muscle macrophages. EGFP expression is detected at birth.

Control Suggestions

None Available

Additional Information

Considerations for Choosing Controls

Selected References

Le TT; Pham LT; Butchbach ME; Zhang HL; Monani UR; Coovert DD; Gavrilina TO; Xing L; Bassell GJ; Burghes AH. 2005. SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum Mol Genet 14(6):845-57PubMed: 15703193 MGI: J:97103
Zuo Y; Lubischer JL; Kang H; Tian L; Mikesh M; Marks A; Scofield VL; Maika S; Newman C; Krieg P; Thompson WJ. 2004. Fluorescent proteins expressed in mouse transgenic lines mark subsets of glia, neurons, macrophages, and dendritic cells for vital examination. J Neurosci 24(49):10999-1009PubMed: 15590915 MGI: J:94808

View All References

Genetics

Smn1^tm1Msd

Allele Symbol: Smn1^tm1Msd

Allele Name	targeted mutation 1, Michael Sendtner
Allele Type	Targeted (Reporter, Null/Knockout)
Allele Synonym(s)	SMN^-
Gene Symbol and Name	Smn1, survival motor neuron 1
Gene Synonym(s)
Expressed Gene	lacZ, beta-galactosidase, E. coli
Site of Expression	The expression of the lacZ gene in tissues where Smn is normally expressed was noted.
Strain of Origin	129P2/OlaHsd
Chromosome	13
Molecular Note	A lacZ-neo cassette was inserted into exon 2 by homologous recombination resulting in an in-frame fusion of lacZ to exon 2. Homozygous mutant embryos were identified up to 80 hours post coitum. The expression of the lacZ gene in tissues where Smn is normally expressed was noted.
Mutations Made By	Michael Sendtner

Grm7^{Tg(SMN2)89Ahmb}

Allele Symbol: Grm7^{Tg(SMN2)89Ahmb}

Allele Name	transgene insertion 89, Arthur H M Burghes
Allele Type	Transgenic (Hypomorph, Inserted expressed sequence, Humanized sequence)
Allele Synonym(s)	SMN2; Tg(SMN2)89Ahmb
Gene Symbol and Name	Grm7, glutamate receptor, metabotropic 7
Gene Synonym(s)
Promoter	SMN2, survival of motor neuron 2, centromeric, human
Expressed Gene	SMN2, survival of motor neuron 2, centromeric, human
Site of Expression	Human SMN2 protein is expressed in the tissues examined (brain, liver, spinal cord) [Stock No. 005024].
Strain of Origin	FVB/N
Chromosome	6
Molecular Note	A 35.5 kb genomic fragment containing the human survival motor neuron 2 (SMN2) gene and promoter was used for the transgene. The transgene is ubiquitously expressed in all tissues examined by Northern blot analysis. Line 89 carries 1 copy of the transgene integrated into intron 4 of the gene. RT-PCR confirmed reduced expression of the gene the transgene is integrated into.
Mutations Made By	Arthur Burghes, The Ohio State University

Tg(SMN2*delta7)4299Ahmb

Allele Symbol: Tg(SMN2*delta7)4299Ahmb

Allele Name	transgene insertion 4299, Arthur H M Burghes
Allele Type	Transgenic (Inserted expressed sequence, Humanized sequence)
Allele Synonym(s)	SMNdelta7; Tg(SMN1*delta7)4299Ahmb
Gene Symbol and Name	Tg(SMN2*delta7)4299Ahmb, transgene insertion 4299, Arthur H M Burghes
Gene Synonym(s)
Promoter	SMN2, survival of motor neuron 2, centromeric, human
Expressed Gene	SMN2, survival of motor neuron 2, centromeric, human
Site of Expression	Tg(SMN2*delta7)4299Ahmb
Strain of Origin	FVB/N
Chromosome	UN
Molecular Note	The transgene contains a human SMN2 promoter and a human SMN2 cDNA (SMNdelta7) that lacks exon 7. There are 14 copies of this allele integrated into the genome.
Mutations Made By	Arthur Burghes, The Ohio State University

Tg(S100B-EGFP)1Wjt

Allele Symbol: Tg(S100B-EGFP)1Wjt

Allele Name	transgene insertion 1, Wesley Thompson
Allele Type	Transgenic (Reporter)
Allele Synonym(s)	kosmos; s100-GFP
Gene Symbol and Name	Tg(S100B-EGFP)1Wjt, transgene insertion 1, Wesley Thompson
Gene Synonym(s)
Promoter	S100B, S100 calcium binding protein B, human
Expressed Gene	GFP, Green Fluorescent Protein,
Site of Expression	Schwann cells of the sternomastoid, soleus, extensor digitorum longus, triangularis sterni and diaphragm muscles, some astrocytes, Bergmann glia and a few muscle macrophages. EGFP expression is detected at birth.
Strain of Origin	(C57BL/6 x DBA/2)F2
Chromosome	UN
Molecular Note	This transgene contains an Enhanced Green Fluorescent Protein gene under the control of the human S100 calcium-binding protein, beta (neural) promoter, which includes 6.6 kb of 5' flanking DNA, the first, noncoding exon and the first intron, including the 3' splice acceptor site. Fluorescence is detected in transgenic mice from birth in Schwann cells of the sternomastoid, soleus, extensor digitorum longus, triangularis sterni and diaphragm muscles, some astrocytes, Bergmann glia and a few muscle macrophages.
Mutations Made By	Wesley Thompson, University of Texas

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Research Tools
- Neurobiology Research
  - cell marker
- Genetics Research
  - Tissue/Cell Markers: multiple
- Fluorescent Proteins
Neurobiology Research
- Neurodegeneration
- Spinal Muscular Atrophy (SMA)
- Fluorescent protein expression in neural tissue

Genotype: Smn1^tm1Msd related

Neurobiology Research
- Spinal Muscular Atrophy (SMA)

Mammalian Phenotype Terms by Genotype

References

Le TT; Pham LT; Butchbach ME; Zhang HL; Monani UR; Coovert DD; Gavrilina TO; Xing L; Bassell GJ; Burghes AH. 2005. SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum Mol Genet 14(6):845-57PubMed: 15703193 MGI: J:97103
Zuo Y; Lubischer JL; Kang H; Tian L; Mikesh M; Marks A; Scofield VL; Maika S; Newman C; Krieg P; Thompson WJ. 2004. Fluorescent proteins expressed in mouse transgenic lines mark subsets of glia, neurons, macrophages, and dendritic cells for vital examination. J Neurosci 24(49):10999-1009PubMed: 15590915 MGI: J:94808

Additional - Grm7^{Tg(SMN2)89Ahmb} related

Additional - Smn1^tm1Msd related

Additional - Tg(S100B-EGFP)1Wjt related

Additional - Tg(SMN2*delta7)4299Ahmb related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Breeding Considerations

The Smn1 (survival motor neuron 1) gene on Chr 13 and the two randomly inserted Tg(SMN2*delta7)4299Ahmb and Tg(SMN2)89Ahmb transgenes are not linked and will segregate independently. Breeding pairs offered by The Jackson Laboratory are homozygous for the Tg(SMN2*delta7)4299Ahmb and Tg(SMN2)89Ahmb transgenes, hemizygous for the Tg(S100B-EGFP)1Wjt transgene and heterozygous for the targeted Smn mutation. These breeding pairs are phenotypically normal and do not exhibit symptoms of neuropathology. Mice that are homozygous for the Tg(SMN2*delta7)4299Ahmb and Tg(SMN2)89Ahmb transgenes and homozygous for the targeted mutation will display the SMA-like phenotype and live to about 2 weeks of age. Presence of the Tg(S100B-EGFP)1Wjt transgene does not change the phenotype. Mice homozygous for both the Tg(SMN2*delta7)4299Ahmb and Tg(SMN2)89Ahmb transgenes and heterozygous for the targeted mutation will not display the SMA-like phenotype but can be mated with each other to generate additional affected mice. Mice homozygous for both the Tg(SMN2*delta7)4299Ahmb and Tg(SMN2)89Ahmb transgenes and wildtype at the Smn1 locus will also not exhibit an SMA-like phenotype but can be employed as control mice depending on the nature of the experiment.
- Additional Breeding and Husbandry Support
Mating System
- See "Breeding Considerations"
Citation
When using the FVB.Cg-Grm7^{Tg(SMN2)89Ahmb} Smn1^tm1Msd Tg(S100B-EGFP)1Wjt Tg(SMN2*delta7)4299Ahmb/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #016573 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 wildtype for Smn1tm1Msd, Hemizygous or Non Carrier for Tg(S100B-EGFP)1Wjt, Homozygous for Tg(SMN2)89Ahmb,Homozygous for Tg(SMN2*delta7)4299Ahmb,

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

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Expression Data

Control Suggestions

Additional Information

Selected References

Smn1tm1Msd

Allele Symbol: Smn1tm1Msd

Grm7Tg(SMN2)89Ahmb

Allele Symbol: Grm7Tg(SMN2)89Ahmb

Tg(SMN2*delta7)4299Ahmb

Allele Symbol: Tg(SMN2*delta7)4299Ahmb

Tg(S100B-EGFP)1Wjt

Allele Symbol: Tg(S100B-EGFP)1Wjt

Disease Terms

Research Areas By Phenotype

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

Genotype: Smn1tm1Msd related

Mammalian Phenotype Terms by Genotype

References

Additional - Grm7Tg(SMN2)89Ahmb related

Additional - Smn1tm1Msd related

Additional - Tg(S100B-EGFP)1Wjt related

Additional - Tg(SMN2*delta7)4299Ahmb related

Genotyping Protocols

Breeding Considerations

Mating System

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

Smn1^tm1Msd

Allele Symbol: Smn1^tm1Msd

Grm7^{Tg(SMN2)89Ahmb}

Allele Symbol: Grm7^{Tg(SMN2)89Ahmb}

Genotype: Smn1^tm1Msd related

Additional - Grm7^{Tg(SMN2)89Ahmb} related

Additional - Smn1^tm1Msd related