Search Criteria: Research Area is "Neurobiology Research: Spinal Muscular Atrophy (SMA)"

New Strains Under Development

JAX^® Mice Strains

Stock Number	Strain Name   Phenotype	Standard Supply
006146	B6.129-Smn1tm1Jme/J	Repository- Live
	Mice homozygous for this SMNF7 floxed allele are viable and fertile and do not display any gross physical or behavioral abnormalities. Mutant mice exhibit no transcript splicing defects. Cre-mediated recombination of the loxP-flanked sequences results in deletion of exon 7 of the targeted gene. As mutations of this exon are implicated in 95% of all human spinal muscular atrophy (SMA), these mice may be useful in studying SMA or other neuromuscular degenerative diseases. When crossed to a strain expressing Cre recombinase in neurons (see Stock No. 005938, Stock No. 006297, and Stock No. 006663), this mutant mouse strain may be useful as a model of SMA. When crossed to a strain expressing Cre recombinase in striated muscle fibers (see Stock No. For more information please see the full phenotype on the strain data sheet
006149	B6.Cg-Tg(ACTA1-cre)79Jme/J	Repository- Live
	Mice hemizygous for this HSA-Cre79 transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These HSA-Cre79 transgenic mice have the cre recombinase gene driven by the human alpha-skeletal actin (HSA or ACTA1) promoter. Cre activity is restricted to adult striated muscle fibers and embryonic striated muscle cells of the somites and heart. When bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in striated muscle-specific deletion of the flanked genome. Specifically, these HSA-Cre79 (or ACTA1-Cre) transgenic mice were originally used to breed with mice heterozygous for a deletion of exon 7 and a loxP-flanked exon 7 mutation on homologous chromosomes of the Smn1 gene (see Stock No. 006138 or Stock No. 006146). The resulting offspring ( ..... For more information please see the full phenotype on the strain data sheet
006663	B6.Cg-Tg(Eno2-cre)39Jme/J	Repository- Live
	Mice hemizygous for this NSE39-Cre transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These NSE39-Cre mice harbor a transgenic insert consisting of the cre recombinase gene under the control of the promoter region of the rat neuron specific enolase (NSE or Eno2) gene. As such, Cre recombinase activity is directed to neurons with expression in many tissue types. When bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in deletion of the flanked genome. Specifically, these NSE39-Cre transgenic mice may also be useful in studies of spinal muscular atrophy (SMA) along with mice harboring a conditional (floxed) Smn1 gene (see Stock No. 006138 or Stock No. 006146). Additional SMA strains expressing cre in striated muscle are av ..... For more information please see the full phenotype on the strain data sheet
006138	FVB.129(B6)-Smn1tm1Jme/J	Repository- Live
	Mice homozygous for this SMNF7 floxed allele are viable and fertile and do not display any gross physical or behavioral abnormalities. Mutant mice exhibit no transcript splicing defects. Cre-mediated recombination of the loxP-flanked sequences results in deletion of exon 7 of the targeted gene. As mutations of this exon are implicated in 95% of all human spinal muscular atrophy (SMA), these mice may be useful in studying SMA or other neuromuscular degenerative diseases. When crossed to a strain expressing Cre recombinase in neurons (ssee Stock No. 005938, Stock No. 006297, and Stock No. 006663), this mutant mouse strain may be useful as a model of SMA. When crossed to a strain expressing Cre recombinase in striated muscle fibers (see Stock No. For more information please see the full phenotype on the strain data sheet
006214	FVB.Cg-Smn1tm1Msd/J	Repository- Live
	Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Beta-galactosidase staining is found in oocytes of pregnant heterozygous females. Homozygous mice have an early embryonic lethal phenotype, failing to form a blastocoel cavity and do not implant. Abnormal development is observed by 80 hours post conception. By 90 to 100 hours post conception there is massive cellular degeneration and apoptotic cell death. This mutant mouse strain may be useful in studies of spinal muscular atrophy.
006297	FVB.Cg-Tg(Eno2-cre)39Jme/J	Repository- Live
	Mice hemizygous for this NSE39-Cre transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These NSE39-Cre mice harbor a transgenic insert consisting of the Cre recombinase gene under the control of the promoter region of the rat neuron specific enolase (NSE or Eno2) gene. As such, Cre recombinase activity is directed to neurons with expression in many tissue types. When bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in deletion of the flanked genome. Specifically, these NSE39-Cre transgenic mice may also be useful in studies of spinal muscular atrophy (SMA) along with mice harboring a conditional (floxed) Smn1 gene (see Stock No. 006138 or Stock No. 006146). Additional SMA strains expressing cre in striated muscle are available ..... For more information please see the full phenotype on the strain data sheet
005058	FVB.Cg-Tg(SMN2)2Hung Smn1tm1Hung/J	Repository- Live
	Mice that are homozygous for the Smn1 targeted mutation and hemizygous for the SMN2 transgene are viable, fertile and exhibit short and thickened tails. RT-PCR analysis detects alternative splicing of the transgene. Histological examination of tail tissue reveals atrophic muscles and subcutaneous edema. Skeletal muscle tissue has fewer myocytes and atrophic muscle bundles. Large motor neurons in the anterior horns of the spinal cord degenerate and are lost. There is a strong correlation between estimated copy number of the transgene and severity of the phenotype. These mice exhibit a molecular and progressive neurodegenerative phenotype similar to Type III spinal muscular atrophy. Mice that are homozygous for the targeted mutation and do not carry the transgene have an embryonic lethal phenotype, failing to survive past embryonic day 6.5. Importation of this model was supported by the Spinal Muscular Atrophy Foundation.
005024	FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd/J	Repository- Live
	Mice that are homozygous for the targeted mutant Smn1 allele and carry the SMN2 transgene exhibit symptoms and neuropathology similar to patients afflicted with type I proximal spinal muscular atrophy (SMA). In the initial characterization by the donating investigator, mice were either stillborn or survived 4-6 days. Mice that died at or shortly after birth were slightly smaller (1.33 g. vs. 1.51 g.) than normal littermates. Mice that survive for several days are indistinguishable from normal littermates in the first 48 hours, after which they exhibit decreased suckling and movement, labored breathing and tremoring limbs. Mice succumbing at this later time point are noticeably smaller than normal littermates (1.47 g vs. 4.59). A bell-shaped trunk is also noticeable in affected mice, presumably from intercostal muscle weakness, a characteristic of type I SMA. Histological analysis indicates that affected mice that survive to day 5 exhibit a loss of motor neurons from spina ..... For more information please see the full phenotype on the strain data sheet
005026	FVB.Cg-Tg(SMN2)89Ahmb Tg(SMN1*A2G)2023Ahmb Smn1tm1Msd/J	Repository- Live
	Mice that are homozygous for the targeted mutant Smn allele and homozygous for the SMN2transgene and hemizygous for the SMN1*A2G transgenes exhibit symptoms and neuropathology similar to patients afflicted with type III (mild) proximal spinal muscular atrophy (SMA). These same animals with only one copy of the SMN2transgene are 20%-40% smaller than unaffected mice. At 3 weeks of age they become less active and show signs of muscle weakness. The mice have a shortened lifespan (less than a year) near the end of which they exhibit reduced movement, diminished grooming, shallow breathing and considerable weight loss. Immunohistochemical analysis of spinal cord tissue from 1 month-old animals indicates the presence of cytoplasmic SMN protein and intranuclear aggregates (gems) of the SMN protein. The number of gems is however, fewer than the number found in age matched control tissues. Histological analysis of muscle tissue (gastrocnemius, quadriceps, and intercostals mu ..... For more information please see the full phenotype on the strain data sheet
005025	FVB.Cg-Tg(SMN2*delta7)4299Ahmb Tg(SMN2)89Ahmb Smn1tm1Msd/J	Repository- Live
	This triple mutant mouse harbors two transgenic alleles and a single targeted mutant. The Tg(SMN2*delta7)4299Ahmb allele consists of a SMA cDNA lacking exon 7 whereas the Tg(SMN2)89Ahmb allele consists of the entire human SMN2 gene. Mice that are homozygous for the targeted mutant Smn allele and homozygous for the two transgenic alleles exhibit symptoms and neuropathology similar to patients afflicted with proximal spinal muscular atrophy (SMA). At birth, triple mutants are noticeably smaller than normal littermates. By day 5, signs of muscle weakness are apparent and become progressively more pronounced over the following week as the mice display an abnormal gait, shakiness in the hind limbs and a tendency to fall over. Mean survival is approximately 13 days. Immunocytochemical analysis indicates that dystrophin expression is normal, however fibers isolated from the gastrocnemius muscle of a 14 day old triple mutant clearly show evidence of atrophy. Importation ..... For more information please see the full phenotype on the strain data sheet
006570	STOCK Smn1tm1Msd Tg(Hlxb9-GFP)1Tmj Tg(SMN2)89Ahmb/J	Repository- Live
	Similar to Stock No. 005024, mice that are homozygous for the targeted mutant Smn1 allele and carry the SMN2 transgene exhibit symptoms and neuropathology similar to patients afflicted with type I proximal spinal muscular atrophy (SMA). As an addition to Stock No. 005024, this line carries a transgene containing a Green Fluorescent Protein (GFP) under the direction of the mouse Hlxb9 promoter. Transgenic mice display distinct expression of GFP in dendrites, axons and soma of spinal motor neurons, allowing identification, isolation and purification of spinal motor neurons by FACS. GFP expression mimics endogenous HLXB9 expression pattern. Fluorescence is detected in axons, dendrites and processes of spinal motor neurons at embryonic day 9.5 to postnatal day 10 aged mice. This mutant mouse strain represents a model that may be useful for pu ..... For more information please see the full phenotype on the strain data sheet
005936	STOCK Tg(ACTA1-cre)79Jme/J	Repository- Live
	Mice hemizygous for this HSA-Cre79 transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These HSA-Cre79 transgenic mice have the cre recombinase gene driven by the human alpha-skeletal actin (HSA or ACTA1) promoter. Cre activity is restricted to adult striated muscle fibers and embryonic striated muscle cells of the somites and heart. When bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in striated muscle-specific deletion of the flanked genome. Specifically, these HSA-Cre79 (or ACTA1-Cre) transgenic mice were originally used to breed with mice heterozygous for a deletion of exon 7 and a loxP-flanked exon 7 mutation on homologous chromosomes of the Smn1 gene (see Stock No. 006138 or Stock No. 006146). The resulting offspring ( ..... For more information please see the full phenotype on the strain data sheet
005938	STOCK Tg(Eno2-cre)39Jme/J	Repository- Live
	Mice hemizygous for this NSE39-Cre transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These NSE39-Cre mice harbor a transgenic insert consisting of the cre recombinase gene under the control of the promoter region of the rat neuron specific enolase (NSE or Eno2) gene. As such, Cre recombinase activity is directed to neurons with expression in many tissue types. When bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in deletion of the flanked genome. Specifically, these NSE39-Cre transgenic mice may also be useful in studies of spinal muscular atrophy (SMA) along with mice harboring a conditional (floxed) Smn1 gene (see Stock No. 006138 or Stock No. 006146). Additional SMA strains expressing cre in striated muscle are av ..... For more information please see the full phenotype on the strain data sheet
006139	FVB.Cg-Tg(ACTA1-cre)79Jme/J	Repository-Cryopreserved
	Mice hemizygous for this HSA-Cre79 transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These HSA-Cre79 transgenic mice have the cre recombinase gene driven by the human alpha-skeletal actin (HSA or ACTA1) promoter. Cre activity is restricted to adult striated muscle fibers and embryonic striated muscle cells of the somites and heart. When bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in striated muscle-specific deletion of the flanked genome. Specifically, these HSA-Cre79 (or ACTA1-Cre) transgenic mice were originally used to breed with mice heterozygous for a deletion of exon 7 and a loxP-flanked exon 7 mutation on homologous chromosomes of the Smn1 gene (see Stock No. 006138 or Stock No. 006146). The resulting offspring ( ..... For more information please see the full phenotype on the strain data sheet

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New Strains Under Development

(See informational text following listing of strains)

How to Register Interest
Please indicate your interest in purchasing any of the strains listed below when they become available for distribution by checking the box next to the strain(s) of interest and then selecting the "Continue" button which leads to an Interest Form.

View a Data sheet for New Strains Under Development
Select the strain name to link to the strain data sheet.

	Stock Number	Strain Name   Phenotype	Standard Supply
	007246	B6;129-Smn1tm2Mrph/J	Under Development for Production
	This strain functions as a reporter strain for Smn1 (survival motor neuron 1) in the heterozygous state. Exons 1 through 8 of the mouse Smn1 gene (12.8 kb) were replaced with lacZ and an FRT site remaining from the deletion of a selection marker. This allele is a functional null and homozygous animals are embryonic lethal. Importation of this model was supported by the Spinal Muscular Atrophy Foundation.
	007249	B6;129-Smn1tm3(SMN2/Smn1)Mrph/J	Under Development for Production
	This allele is a functional null in the non-recombined state and homozygous animals are embryonic lethal. This allele is engineered to revert to a fully functional Smn1 allele upon Cre-mediated recombination. 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.
	008383	B6;129-Smn1tm4(SMN2)Mrph/J	Under Development for Production
	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. Importation of this model was supported by the Spinal Muscular Atrophy Foundation.
	008384	B6;129-Smn1tm5(Smn1/SMN2)Mrph/J	Under Development for Production
	In this hybrid allele, Smn allele C, contains two tandem Smn1/SMN2 genes. Further characterization is currently in progress. 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.
	008203	FVB.Cg-Smn1tm1Msd Tg(ACTA1-SMN)63Ahmb Tg(SMN2)89Ahmb/J	Under Development for Production
	As described for SMA mice (see Stock No. 005024), mice homozygous for Smn1tm1Msd targeted mutation (Smn null allele) and human SMN2 low copy line 89 transgene exhibit symptoms, neuropathology, and early lethality similar to human type I proximal spinal muscular atrophy (SMA) patients. As an addition to that SMA model, this strain also carries the HSA-SMN transgene; with the human alpha-skeletal actin (HSA or ACTA1) promoter directing full-length human SMN expression at high levels in skeletal muscle. When the HSA-SMN transgene is derived from HSA69-SMN founder mice, skeletal muscle-specific SMN expression is preserved, and homozygous SMN2; Smn; HSA69-SMN mutant animals (Stock No. 008209) have the same phenotype as homozygous SMA mice. In contrast, expression of the HSA-SMN transgene derived from HSA63-SMN founder mice is leaky; with hi ..... For more information please see the full phenotype on the strain data sheet
	008209	FVB.Cg-Smn1tm1Msd Tg(ACTA1-SMN)69Ahmb Tg(SMN2)89Ahmb/J	Under Development for Production
	As described for SMA mice (see Stock No. 005024), mice homozygous for Smn1tm1Msd targeted mutation (Smn null allele) and human SMN2 low copy line 89 transgene exhibit symptoms, neuropathology, and early lethality similar to human type I proximal spinal muscular atrophy (SMA) patients. As an addition to that SMA model, this strain also carries the HSA-SMN transgene; with the human alpha-skeletal actin (HSA or ACTA1) promoter directing full-length human SMN expression at high levels in skeletal muscle. When the HSA-SMN transgene is derived from HSA69-SMN founder mice, skeletal muscle-specific SMN expression is preserved, and homozygous SMN2; Smn; HSA69-SMN mutant animals (Stock No. 008209) have the same phenotype as homozygous SMA mice. In contrast, expression of the HSA-SMN transgene derived from HSA63-SMN founder mice is leaky; with hi ..... For more information please see the full phenotype on the strain data sheet
	008206	FVB.Cg-Smn1tm1Msd Tg(SMN2)566Ahmb/J	Under Development for Production
	As described for SMA mice (see Stock No. 005024), mice homozygous for Smn1tm1Msd targeted mutation (Smn null allele) and single copy human SMN2 low copy line 89 exhibit symptoms, neuropathology, and early lethality similar to human type I proximal spinal muscular atrophy (SMA) patients. In contrast to that SMA model, this strain carries the high copy SMN2 (founder line 566) transgene instead of the single copy SMN2 (line 89) transgene. As a result of the high SMN2 copy number, mice homozygous for the Smn1tm1Msd targeted mutation and high copy SMN2 line 566 (16 copies when homozygous) are rescued from all overt features of the severe SMA phenotype. Homozygous Smn; SMN2 high copy line 566 mice have a shorter and thicker tail. These Smn; SMN2 high copy line 566 mutant mice may be useful in neuromuscular studies including spinal muscular atrophy (SMA).
	008212	STOCK Smn1tm1Msd Tg(Prnp-SMN)92Ahmb Tg(SMN2)89Ahmb/J	Under Development for Production
	As described for SMA mice (see Stock No. 005024), mice homozygous for Smn1tm1Msd targeted mutation (Smn null allele) and human SMN2 transgene (SMN2 low copy line 89) exhibit symptoms, neuropathology, and early lethality similar to human type I proximal spinal muscular atrophy (SMA) patients. As an addition to that SMA model, this strain also carries the PrP-SMN transgene; with the mouse prion protein (PrP or Prnp) promoter directing full-length human SMN expression at high levels in neurons (with low expression in skeletal muscle and liver). When the PrP-SMN transgene is derived from PrP92-SMN founder mice, high SMN expression in spinal cord and brain is observed. Homozygous SMN2; Smn; Prp92-SMN mice are rescued from the severe SMA phenotype, have significantly increased lifespan (average of 210 days) and have normal lumbar motor neuron root counts. Homozygous SMN2; Smn; PrP92-SMN mal ..... For more information please see the full phenotype on the strain data sheet
	007951	STOCK Smn1tm3(SMN2/Smn1)Mrph Tg(SMN2*delta7)4299Ahmb Tg(SMN2)89Ahmb/J	Under Development for Production
	This triple mutant mouse harbors two transgenic alleles and a single targeted mutation. The Tg(SMN2*delta7)4299Ahmb allele consists of a human SMN2 (survival of motor neuron 2, centromeric) cDNA lacking exon 7 whereas the Tg(SMN2)89Ahmb allele consists of the entire human SMN2 gene. Mice that are homozygous for the targeted mutant Smn1tm3(SMN2/Smn1/SMN2)Mrph allele and homozygous for the two transgenic alleles should function similarly to SMA mutant strain FVB.Cg-Tg(SMN2*delta7)4299Ahmb Tg(SMN2)89Ahmb Smn1tm1Msd/J (Stock no. 005025 ). The targeted mutant Smn1tm3(SMN2/Smn1/SMN2)Mrph allele is engineered to revert to a fully functional Smn1 allele upon Cre-mediated recombination. 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. ..... For more information please see the full phenotype on the strain data sheet

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New Strains Under Development

• Receive periodic updates on the status of the colony UNDER DEVELOPMENT
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The Jackson Laboratory serves as a worldwide distributor and national repository for common and rare strains of inbred mice and mice carrying spontaneous mutations or induced mutations (i.e., transgenic, targeted/"knockout", or chemically induced mutations). At any one time, we have over 100 strains at various stages of development and colony expansion. Strains "Under Development" fall into two categories depending on the anticipated demand from the scientific community.

1. Strains that will be made available from a live distribution colony at The Jackson Laboratory.
   These strains are designated as: "Under Development for Distribution Colony"
2. Strains that will be made available through the Cryopreservation Repository.
   These strains are designated as: "Under Development for Cryopreservation Repository"

It is VERY IMPORTANT that you register interest in strains Under Development. The anticipated demand for a strain enables us to determine effectively the distribution plan for each strain Under Development. Registering interest also provides benefits to you (including advance notification of pending availability). Whether a strain is made available from a live colony OR from our cryopreservation repository, you may want to consider the option of Dedicated Supply. To learn more about Dedicated Supply, go to Services.

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