Mice that are homozygous for the Tg(SMN2*A111G)591Ahmb 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.
Arthur H.M. Burghes, The Ohio State University
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
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)591Ahmb transgene and homozygous for the Smn1tm1Msd targeted mutation are not viable. Mice that are hemizygous for the Tg(SMN2*A111G)591Ahmb 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. The Jackson Laboratory has been unable to generate animals homozygous for all three alleles. Strong expression of the Tg(SMN2*A111G)591Ahmb transgene in founder line 591 is detected in the spinal cord, and weaker expression is detected in forebrain and liver by RT-PCR. This mutant mouse strain may be useful in studies of spinal muscular atrophy.
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 591 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).
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 591, Arthur H M Burghes |
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Allele Type | Transgenic (Inserted expressed sequence) |
Allele Synonym(s) | A591; line 591; SMN(A111G); SMN(A11G) |
Gene Symbol and Name | Tg(SMN2*A111G)591Ahmb, transgene insertion 591, 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 | UN |
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. Ten founder lines were obtained and line 588 was subsequently established. This line was found to have 5 copies of the transgene. |
In a live colony, these mice are maintained as hemizygous for the Tg(SMN2*A111G)591Ahmb transgene, homozygous for the Tg(SMN2)89Ahmb transgene and homozygous for the Smn1tm1Msd targeted mutation. The Jackson Laboratory has been unable to generate animals homozygous for all three alleles.
When using the FVB.Cg-Grm7Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*A111G)591Ahmb/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #009134 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Homozygous for Smn1<tm1Msd>,Homozygous for Tg(SMN2)89Ahmb, Hemizygous or non carrier for Tg(SMN2*A111G)591Ahmb |
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