Mice that are homozygous for the Smn1tm1Msd allele and the Tg(SMN2)46Tro (SMN2, survival of motor neuron 2, centromeric, human) transgene do not display a SMA-like phenotype. Necrotic lesions are observed on the tail, ears and teeth. This mutant mouse strain may be useful in neuromuscular studies involving Spinal Muscular Atrophy (SMA).
Thierry Bordet, TROPHOS
Genetic Background | Generation |
---|---|
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Targeted (Reporter, Null/Knockout) | Smn1 | survival motor neuron 1 |
Allele Type |
---|
Transgenic (Inserted expressed sequence, Humanized sequence) |
Mice that are homozygous for both the Smn1tm1Msd targeted mutation and the SMN2, survival of motor neuron 2, centromeric, human, transgene (founder line 46) are viable, fertile and do not display a SMA-like phenotype. Necrotic lesions are observed on the tail, ears and teeth. Mice that are hemizygous for the transgene and homozygous for the targeted mutation have an embryonic lethal phenotype. Mice that are heterozygous for the Smn1tm1Msd allele and homozygous for the SMN2 transgene are viable, fertile and do not exhibit neuropathy. Mice homozygous for the transgene (and wildtype at the Smn1 locus) do not exhibit an abnormal phenotype. This mutant mouse strain may be useful in neuromuscular studies involving Spinal Muscular Atrophy (SMA).
These double mutant mice were generated by crossing transgenic mice, founder line 46, with Smn1tm1Msd targeted mutant mice.
The targeted mutant allele was created in the laboratory of Dr. Michael Sendtner at the University of Wurzburg, Germany. Exon 2 of the endogenous mouse Smn gene was disrupted by employing a targeting vector encoding a neomycin cassette and a lacZ gene fused to the first 40 nucleotides of the disrupted exon to permit expression of the lacZ gene in tissues where Smn is normally expressed. The construct was electroporated into 129P2/OlaHsd-derived E14Tg2a-IV embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts and chimeric animals obtained. Chimeric animals were crossed to C57BL/6 for an unspecified number of generations. The Donating Investigator reports that the Tg(SMN2)46Tro has been localized on chromosome 3. Mice hemizygous for the transgene have 2 copies of the transgene.
The SMN2 transgene was created at Trophos (Marseilles, France). 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 were established and then mated to mice heterozygous for the Smn1tm1Msd allele. The donating investigator reported that the double mutant mice were then backcrossed to C57BL/6N (see SNP note below) for at least 15 generations.
Upon arrival at The Jackson Laboratory, the mice were crossed to C57BL/6NJ (Stock No. 005304) at least once to establish the colony.
A 32 SNP (single nucleotide polymorphism) panel analysis, with 27 markers covering all 19 chromosomes and the X chromosome, as well as 5 markers that distinguish between the C57BL/6J and C57BL/6N substrains, was performed on the rederived living colony at The Jackson Laboratory Repository. While the 27 markers throughout the genome suggested a C57BL/6 genetic background, all 5 markers that determine C57BL/6J from C57BL/6N were found to be C57BL/6J. These data suggest the mice sent to The Jackson Laboratory Repository were on a C57BL/6 genetic background.
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 |
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. |
When maintaining a live colony, mice that are homozygous for the SMN2 transgene and heterozygous for the Smn1tm1Msd allele are bred with mice that are homozygous for the SMN2 transgene and wildtype at the Smn1 locus.
When using the B6.Cg-Tg(SMN2)46Tro Smn1tm1Msd/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #008630 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Hemizygous for Tg(SMN2)46Tro, Heterozygous or wildtype for Smn1<tm1Msd> |
Frozen Mouse Embryo | B6.Cg-Tg(SMN2)46Tro Smn1<tm1Msd>/J | $2595.00 |
Frozen Mouse Embryo | B6.Cg-Tg(SMN2)46Tro Smn1<tm1Msd>/J | $2595.00 |
Frozen Mouse Embryo | B6.Cg-Tg(SMN2)46Tro Smn1<tm1Msd>/J | $3373.50 |
Frozen Mouse Embryo | B6.Cg-Tg(SMN2)46Tro Smn1<tm1Msd>/J | $3373.50 |
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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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