Mice that are homozygous for the Tg(SMN2*A111G)588Ahmb transgene (survival of motor neuron 2, centromeric, human), homozygous for the Smn1tm1Msd (survival motor neuron 1) targeted mutation and hemizygous or homozygous for the Tg(SMN2)89Ahmb transgene are viable and survive for longer than one year. This mutant mouse strain may be useful in studies of spinal muscular atrophy.
Of note, for other mice carrying the same Tg(SMN2*A111G)588Ahmb transgene (Stock No. 031909), it was discovered that Tg(SMN2*A111G)588Ahmb integrated on chromosome 8 (119838039-119852117; mouse mm10]) and resulted in a 14 kb genomic region duplication that includes exons 1 and 2 of the Cotl1 locus. It is not known if the duplicated region expresses any Cotl1 isoforms or truncated protein.
Arthur H.M. Burghes, The Ohio State University
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 |
---|
Transgenic (Hypomorph, Inserted expressed sequence, Humanized sequence) |
Allele Type |
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Transgenic (Inserted expressed sequence) |
Mice that are homozygous for the Tg(SMN2*A111G)588Ahmb transgene and homozygous for the Smn1tm1Msd targeted mutation are not viable. Mice that are homozygous for the Tg(SMN2*A111G)588Ahmb transgene, homozygous for the Smn1tm1Msd targeted mutation and hemizygous or homozygous for the Tg(SMN2)89Ahmb transgene are viable and survive for longer than one year. Expression of the Tg(SMN2*A111G)588Ahmb in founder line 588 is detected in the spinal cord, forebrain and liver by RT-PCR. This mutant mouse strain may be useful in studies of spinal muscular atrophy.
Tg(SMN2*A111G)588Ahmb transgene insertion information: For other mice carrying the same Tg(SMN2*A111G)588Ahmb transgene (Stock No. 031909), in October 2019, sequencing performed by The Jackson Laboratory discovered that three or more copies of the Tg(SMN2*A111G)588Ahmb transgene integrated on chromosome 8 (119838039-119852117; mouse mm10]) and resulted in a duplication of the 14 kb genomic region in between the two identified fusion points. This duplicated region includes exons 1 and 2 of the Cotl1 locus. It is not known if the duplicated region expresses any Cotl1 isoforms or truncated protein. Of note, endogenous Cotl1 has up to 5 exons, and exon 1 contains the ATG site in all 3 protein-coding transcripts [Ensembl GRCm38.p6].
Importation of this model was supported by the Spinal Muscular Atrophy Foundation.
A transgenic construct containing the SMN(A111G) missense mutation under the control of 4.1 kb SMN promoter was injected into fertilized FVB/N mouse eggs. Founder line 588 was subsequently established. Transgenic animals were bred to mice homozygous for the Tg(SMN2)89Ahmb transgene and heterozygous for the Smn1tm1Msd targeted mutation (on a similar background to FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd/J).
Tg(SMN2*A111G)588Ahmb transgene insertion information: For other mice carrying the same Tg(SMN2*A111G)588Ahmb transgene (Stock No. 031909), in October 2019, sequencing performed by The Jackson Laboratory discovered that three or more copies of the Tg(SMN2*A111G)588Ahmb transgene integrated on chromosome 8 (119838039-119852117; mouse mm10]) and resulted in a duplication of the 14 kb genomic region in between the two identified fusion points. This duplicated region includes exons 1 and 2 of the Cotl1 locus. It is not known if the duplicated region expresses any Cotl1 isoforms or truncated protein. Of note, endogenous Cotl1 has up to 5 exons, and exon 1 contains the ATG site in all 3 protein-coding transcripts [Ensembl GRCm38.p6].
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 |
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 588, Arthur H M Burghes |
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Allele Type | Transgenic (Inserted expressed sequence) |
Allele Synonym(s) | A588; A591; line 588; line 591; SMN(A111G) |
Gene Symbol and Name | Tg(SMN2*A111G)588Ahmb, transgene insertion 588, 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 |
Strain of Origin | FVB/N |
Chromosome | 8 |
Molecular Note | A transgenic construct containing the SMN(A111G) missense mutation under the control of 4.1 kb SMN promoter was injected into fertilized FVB/N mouse eggs. Eleven founder lines were obtained and line 588 was subsequently established. This line was found to have 4 copies of the transgene. The transgene integrated on chromosome 8 (119838039-119852117; mouse mm10]), which resulted in a duplication of the 14 kb genomic region in between the two identified fusion points. This duplicated region includes exons 1 and 2 of the Cotl1 locus. It is not known if the duplicated region expresses any Cotl1 isoforms or truncated protein. |
The Grm7Tg(SMN2)89Ahmb (SMN2) allele on chromosome 6, the Smn1tm1Msd allele on chromosome 13 and the Tg(SMN2*A111G)588Ahmb transgene on chromosome 8 are not linked and will segregate independently.
In a live colony, these mice are maintained as hemizygous for the Tg(SMN2)89Ahmb transgene, heterozygous for the Smn1tm1Msd targeted mutation and hemizygous for the Tg(SMN2*A111G)588Ahmb transgene.
When using the FVB.Cg-Grm7Tg(SMN2)89Ahmb Tg(SMN2*A111G)588Ahmb Smn1tm1Msd/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #008782 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous for Smn1<tm1Msd>, Heterozygous for Tg(SMN2)89Ahmb,Hemizygous for Tg(SMN2*A111G)588Ahmb |
Frozen Mouse Embryo | FVB.Cg-Grm7<Tg(SMN2)89Ahmb> Smn1<tm1Msd> Tg(SMN2*A111G)588Ah | $2595.00 |
Frozen Mouse Embryo | FVB.Cg-Grm7<Tg(SMN2)89Ahmb> Smn1<tm1Msd> Tg(SMN2*A111G)588Ah | $2595.00 |
Frozen Mouse Embryo | FVB.Cg-Grm7<Tg(SMN2)89Ahmb> Smn1<tm1Msd> Tg(SMN2*A111G)588Ah | $3373.50 |
Frozen Mouse Embryo | FVB.Cg-Grm7<Tg(SMN2)89Ahmb> Smn1<tm1Msd> Tg(SMN2*A111G)588Ah | $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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