Triple mutant mice that are homozygous for the Smn1tm1Msd allele and hemizygous for the two transgenes, Tg(SMN2)11Tro and Tg(SMN2)46Tro, exhibit diminished weight gain, progressive muscle weakness, necrotic lesions and loss of neurons in the sciatic nerve. This mutant mouse strain may be useful in neuromuscular studies related to Spinal Muscular Atrophy (SMA).
Thierry Bordet, TROPHOS
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 (Inserted expressed sequence, Humanized sequence) |
Allele Type |
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Transgenic (Inserted expressed sequence, Humanized sequence) |
Mice that are homozygous for the Smn1tm1Msd allele and hemizygous for the two transgenes, Tg(SMN2)11Tro and Tg(SMN2)46Tro, exhibit symptoms and neuropathology similar to patients afflicted with severe proximal spinal muscular atrophy (SMA). Triple mutants are indistinguishable from normal littermates in the first 4 days, after which they exhibit diminished weight gain. By 7 days of age, signs of muscle weakness are apparent and become progressively more pronounced over the following week as the mice display an abnormal gait. Mean survival is approximately 15 days although a few animals (<3%) can survive longer. Histological analysis indicates that 15 day old mice have a reduced number of lumbar motor neurons and axons in sciatic nerve. Gastrocnemius muscles at the same age clearly show evidence of atrophy. Triple mutant mice develop progressive and severe necrotic lesions of the tail, ears and teeth. Mice hemizygous for both transgenes and heterozygous for the targeted mutation do not exhibit SMA-like phenotype. This mutant mouse strain may be useful in neuromuscular studies related to Spinal Muscular Atrophy (SMA).
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 | |
Expressed Gene | SMN2, survival of motor neuron 2, centromeric, human |
Site of Expression |
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 46, Thierry Bordet |
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Allele Type | Transgenic (Inserted expressed sequence, Humanized sequence) |
Allele Synonym(s) | SMN2(N46) |
Gene Symbol and Name | Tg(SMN2)46Tro, transgene insertion 46, Thierry Bordet |
Gene Synonym(s) | |
Promoter | SMN2, survival of motor neuron 2, centromeric, human |
Expressed Gene | SMN2, survival of motor neuron 2, centromeric, human |
Strain of Origin | FVB/N |
Chromosome | UN |
Molecular Note | A 35.5 kb Ba mHI genomic fragment encoding the human SMN2 promoter and gene (derived from genomic clone PAC215P15) was injected into fertilized FVB/N mouse oocytes. Transgenic SMN2 mice from founder line 46, which contains 2 copies of the transgene, were established. |
Allele Name | transgene insertion 11, Thierry Bordet |
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Allele Type | Transgenic (Inserted expressed sequence, Humanized sequence) |
Allele Synonym(s) | SMN2(N11) |
Gene Symbol and Name | Tg(SMN2)11Tro, transgene insertion 11, Thierry Bordet |
Gene Synonym(s) | |
Promoter | SMN2, survival of motor neuron 2, centromeric, human |
Expressed Gene | SMN2, survival of motor neuron 2, centromeric, human |
Strain of Origin | FVB/N |
Chromosome | UN |
Molecular Note | A 35.5 kb Ba mHI genomic fragment encoding the human SMN2 promoter and gene (derived from genomic clone PAC215P15) was injected into fertilized FVB/N mouse oocytes. Transgenic SMN2 mice from founder line 11, which contains 1 copy of the transgene, were established. |
These triple mutant mice are maintained by breeding animals from Stock No. 008630 with animals from Stock No. 008629 every generation. The two randomly inserted transgenes segregate independently.
When using the B6.Cg-Tg(SMN2)11Tro Tg(SMN2)46Tro Smn1tm1Msd/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #008631 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Homozygous for Tg(SMN2)11Tro, Heterozygous for Tg(SMN2)46Tro Smn1<tm1Msd> |
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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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