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.
Wesley Thompson, University of Texas
Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Targeted (Reporter, Null/Knockout) | Smn1 | survival motor neuron 1 |
Allele Type |
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Transgenic (Hypomorph, Inserted expressed sequence, Humanized sequence) |
Allele Type |
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Transgenic (Inserted expressed sequence, Humanized sequence) |
Allele Type |
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Transgenic (Reporter) |
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.
Expressed Gene | lacZ, beta-galactosidase, E. coli |
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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 | Grm7Tg(SMN2)89Ahmb |
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. |
Allele Name | targeted mutation 1, Michael Sendtner |
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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 |
Allele Name | transgene insertion 89, Arthur H M Burghes |
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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 | Grm7Tg(SMN2)89Ahmb |
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 |
Allele Name | transgene insertion 4299, Arthur H M Burghes |
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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 |
Allele Name | transgene insertion 1, Wesley Thompson |
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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 |
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.
When using the FVB.Cg-Grm7Tg(SMN2)89Ahmb Smn1tm1Msd 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.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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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, |
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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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