In this hybrid allele, exon 7 of Smn1 (survival motor neuron 1) is replaced with the equivalent exon from human SMN2 (survival of motor neuron 2, centromeric), and is skipped in approximately 90% of the processed mRNA. Further characterization is currently in progress. This mutant mouse strain may be useful in studies of Spinal Muscular Atrophy.
IMR Colony, The Jackson Laboratory
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Targeted (Humanized sequence) | Smn1 | survival motor neuron 1 |
In this hybrid allele, exon 7 of Smn1 (survival motor neuron 1) is replaced with the equivalent exon from human SMN2 (survival of motor neuron 2, centromeric), and is skipped in approximately 90% of the processed mRNA. Further characterization is currently in progress. This mutant mouse strain may be useful in studies of Spinal Muscular Atrophy.
Development of this model was supported by the Spinal Muscular Atrophy Foundation.
This targeted mutation, Smn allele B, is a hybrid Smn1 (survival motor neuron 1) allele in which a 2.2 kb segment of mouse genome containing exons 7 and 8 of the mouse Smn1 (survival motor neuron 1) gene was replaced with a 1.3 kb fragment of human genomic DNA containing exons 7 and 8 of the human SMN2 (survival of motor neuron 2, centromeric) gene. A selection cassette located downstream from the human SMN2 polyadenylation signal was removed by FLPe expression in ES cells leaving a FRT site at the downstream junction between human and mouse DNA. Because exon 7 is derived from human SMN2, it is skipped in approximately 90% of the processed mRNA derived from the hybrid allele. The 129S6/SvEvTac X C57BL/6Tac hybrid derived F1H4 ES cell line was used. The mice were then backcrossed to C57BL/6J using a speed congenic protocol.
Expressed Gene | SMN2, survival of motor neuron 2, centromeric, human |
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Site of Expression |
Allele Name | targeted mutation 4, Andrew Murphy |
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Allele Type | Targeted (Humanized sequence) |
Allele Synonym(s) | Smn allele B |
Gene Symbol and Name | Smn1, survival motor neuron 1 |
Gene Synonym(s) | |
Expressed Gene | SMN2, survival of motor neuron 2, centromeric, human |
Strain of Origin | (129S6/SvEvTac x C57BL/6NTac)F1 |
Chromosome | 13 |
Molecular Note | A 2.2 kb segment of mouse genome containing exons 7 and 8 of the mouse Smn1 (survival motor neuron 1) gene was replaced with a 1.3 kb fragment of human genomic DNA containing exons 7 and 8 of the human SMN2 (survival of motor neuron 2, centromeric) gene. A selection cassette located downstream from the human SMN2 polyadenylation signal was removed by FLPe expression in ES cells leaving a FRT site at the downstream junction between human and mouse DNA. Because exon 7 is derived from human SMN2, it is skipped in approximately 90% of the processed mRNA derived from the hybrid allele. |
Mutations Made By | Andrew Murphy, Regeneron Pharmaceuticals, Inc. |
When maintaining a live colony, these mice can be bred as heterozygotes.
When using the B6.129-Smn1tm4(SMN2)Mrph/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #008453 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildtype for Smn1<tm4(SMN2)Mrph> |
Frozen Mouse Embryo | B6.129-Smn1<tm4(SMN2)Mrph>/J | $2595.00 |
Frozen Mouse Embryo | B6.129-Smn1<tm4(SMN2)Mrph>/J | $2595.00 |
Frozen Mouse Embryo | B6.129-Smn1<tm4(SMN2)Mrph>/J | $3373.50 |
Frozen Mouse Embryo | B6.129-Smn1<tm4(SMN2)Mrph>/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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