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| These Tg(SMN2)89; Smn1+/-; Tg(SMNΔ7)4299; ROSA26rtTA; "old" Luci-TRE-SMN mice allow high levels of both luciferase and full-length human SMN expression to be regulated by the addition/removal of doxycycline. These may be useful as a fluorescent reporter and/or Tet-On/Tet-Off tool strain for doxycycline-inducible rescue of Type II (moderate) proximal spinal muscular atrophy (SMA). | |||||||||||||||||||||||||||
- Description
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Description
Strain Information
Former Names STOCK Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy Smn1tm1Msd Tg(SMN2)89Ahmb Tg(SMN2*delta7)4299Ahmb Tg(tetO-SMN,-luc)#Ahmb/J (Changed: 24-MAY-12 ) Type Mutant Stock; Targeted Mutation; Transgenic; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Mating System See Colony Maintenance under the Health & husbandry tab (Female x Male) 07-AUG-12 Species laboratory mouse Generation F?pN1+
Generation DefinitionsDonating Investigator Arthur H.M. Burghes, The Ohio State University Description
These Tg(SMN2)89; Smn1+/-; Tg(SMNΔ7)4299; ROSA26rtTA; "old" Luci-TRE-SMN mice harbor multiple mutations/transgenes.
The moderate Type II SMA mouse model (see Stock No. 005025) is defined by mice homozygous for the Tg(SMN2)89 transgene (SMN2+/+), homozygous for the Smn1tm1Msd mutation (Smn1-/-), and homozygous for the Tg(SMNΔ7)4299 transgene (SMNΔ7+/+). At birth, SMN2+/+; Smn1-/-; SMNΔ7+/+ mice are small with neuromuscular defects by 5 days old that progress to abnormal gait, hind limb weakness/immobility, and eventually death at approximately 13 days of age.
The ROSA26rtTA targeted mutation results in widespread reverse tetracycline transactivator (rtTA)-expression. The Luci-TRE-SMN transgene has expression of both luciferase and a full-length (exons 1-8) human SMN under the control of a bi-directional tet-responsive promoter. When together in mice, addition of doxycycline (dox) results in widespread and simultaneous expression of luciferase and full-length human SMN expression. When doxycycline (dox) food is introduced to the dams at pup birth, neonatal brain and spinal cord exhibit high levels of luciferase activity beginning at ~48 hours post-induction and increasing to maximum after 10 days on dox. Similarly, full-length SMN is induced at 3 days post-induction and continues to increase to 10 days post-induction (in a similar manner to endogenous SMN protein). Similar results are observed following dox food administration to 28 day old mice. Following 10 days of dox, western blot shows luciferase and human SMN expression in widespread tissues including muscle, brain, liver, heart, spinal cord, heart, kidney, lung, and spleen. In addition, dox induction results in increased SMN expression in motor neurons as well as gems within those motor neurons. Following 28 days of dox administration, the subsequent removal of dox for 10 days results in luciferase and SMN expression levels dropping to non-induced levels.These Tg(SMN2)89; Smn1+/-; Tg(SMNΔ7)4299; ROSA26rtTA; "old" Luci-TRE-SMN mice allow high levels of both luciferase and full-length human SMN expression to be regulated by the addition/removal of dox. Mice heterozygous for the Smn1tm1Msd mutation (Smn1+/-) and homozygous for the other mutations/transgenes are viable and fertile with no reported abnormalities or symptoms of neuropathology. The phenotype of mice homozygous for the Tg(SMN2)89 transgene (SMN2+/+), homozygous for the Smn1tm1Msd mutation (Smn1-/-), homozygous for the Tg(SMNΔ7)4299 transgene (SMNΔ7+/+), homozygous for the ROSA26rtTA mutation (ROSA26rtTA+/+), and hemizygous or homozygous for the Luci-TRE-SMN is described below.
In the absence of dox, the SMN2+/+; Smn1-/-; SMNΔ7+/+; ROSA26rtTA+/+; Luci-TRE-SMN mice (called non-induced SMA mice) die on average of 13 days old with no extension of lifespan (no mice live past ~18 days old). As expected, this is the same phenotype as moderate Type II SMA mouse model (see Stock No. 005025). When pregnant dams are given dox beginning coincident with gestating pup embryonic day (E)13, the high levels of full-length human SMN expression over the early postnatal period in SMN2+/+; Smn1-/-; SMNΔ7+/+; ROSA26rtTA+/+; Luci-TRE-SMN mice results in substantial rescue of SMA: the mice have no marked motor deficits, near normal motor neuron electrophysiology/neuromuscular junction (NMJ) function, fully developed NMJs, and average lifespan of 132 days (~30% of mice live over 200 days). Additionally, early postnatal SMN induction followed by removal of dox from 28-58 days of age, result in no morphological or electrophysiological abnormalities at the NMJ and no overt motor phenotype. Later dox administration to nursing dams rescues SMA but to a lesser extent: dox treatment to nursing dams at pup birth/postnatal day 1 (P0/P1) results in average lifespan of 86 days (~15% of mice live over 200 days), while dox treatment to nursing dams at pup postnatal day 2 (P2) leads to average lifespan of 25 days.The donating investigator reports the following doxycycline approach. For embryonic induction, pregnant females were given water containing 500 mg/ml of doxycycline. At pup birth, doxycycline food (200 mg/kg) was introduced to the cage and the doxycycline water removed. For postnatal induction, high-concentration doxycycline food (6 g/kg) was administered to the mother; thus the pups received doxycycline in the mother's milk. Of note, high-concentration doxycycline food (6 g/kg) was found to severely affect birth rates if administered to pregnant mice.
Development
These Tg(SMN2)89; Smn1+/-; Tg(SMNΔ7)4299; ROSA26rtTA; "old" Luci-TRE-SMN mice harbor several mutations/transgenes, as described below.Mice homozygous for the Tg(SMN2)89 transgene (SMN2+/+), homoozygous for the Smn1tm1Msd mutation (Smn1-/-), and homozygous for the Tg(SMNΔ7)4299 transgene (SMNΔ7+/+) define the moderate type II SMA mouse model. The Tg(SMN2)89; Smn1-/-; Tg(SMNΔ7)4299 mice are described as Stock No. 005025. These mice were bred to and maintained upon an FVB/N genetic background prior to being used for breeding as below.
To generate the widespread rtTa-expressing mutation ROSA26rtTA, mice with the flox-STOP ROSA26-rtTA mutation (ICR;129 background; Stock No. 005572) were bred with Sox2-Cre transgenic mice (FVB;Swiss Webster;C57BL6;CBA background; see Stock No. 004783). The resulting offspring with pan-deletion of the lox-flanked STOP cassette/widespread expression of rtTA were bred to and maintained upon a C57BL/6 genetic background prior to being used as a donor for the Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy allele (see below).
The Luci-TRE-SMN transgene was created by Dr. Arthur HM Burghes (The Ohio State University). The Luci-TRE-SMN transgenic construct used here ["old" pBI-L-SMN] was designed with a luciferase sequence on one side, and a full-length human SMN2 cDNA sequence (encoding exons 1-8) on the other side of the Pbi-1 bi-directional tetracycline-responsive promoter. The 1.37 kb human SMN2 cDNA sequence was derived via RT-PCR performed on total RNA isolated from SMA type 1-derived patient fibroblast cells (Coriell Institute GM 3813; shown to express both full-length and truncated SMN2 transcripts). Compared to the "new" pBI-L-SMN(B) construct, the "old" pBI-L-SMN construct used here retains part of a hemagglutinin epitope tag sequence between the Pbi-1 promoter and 5' end of SMN2 cDNA. The Pbi-1 promoter contains the Tet-responsive element (TRE; seven copies of the 42-bp tet operator sequence [tetO]) placed between two minimal CMV enhancer-less promoters. The "old" Luci-TRE-SMN transgene was microinjected into the male pronucleus of FVB/N embryos. Founder mice were bred with Camk2a-tTA mice (FVB background; see Stock No. 003010) to determine which lines had high dox-inducible levels of luciferase and SMN in brain. The high-expressing "old" Luci-TRE-SMN founder line was identified and used as below.
To generate the Tg(SMN2)89; Smn1+/-; Tg(SMNΔ7)4299; ROSA26rtTA; "old" Luci-TRE-SMN animals, mice from the moderate type II SMA colony (Tg(SMN2)89+/+; Smn1+/-; Tg(SMNΔ7)4299+/+) were bred to ROSA26rtTA mice. Because the ROSA26rtTA mutation and Tg(SMN2)89 transgene insertion lie relatively close to each other on chromosome 6, additional crosses were performed to FVB/N wildtype mice; and a single mouse with a recombinant chromosome containing both Tg(SMN2)89 and ROSA26rtTA was identified. Next, those mice were bred to also harbor the "old" Luci-TRE-SMN transgene. The resulting Tg(SMN2)89; Smn1+/-; Tg(SMNΔ7)4299; ROSA26rtTA; "old" Luci-TRE-SMN mice (on a mixed FVB/N and C57BL/6 genetic background) were sent to The Jackson Laboratory Repository as Stock No. 017596. Upon arrival, males were used to cryopreserve sperm. To establish the living mouse colony, an aliquot of the frozen sperm was used to fertilize oocytes from moderate type II SMA females (Stock No. 005025).
Control Information
| Control | ||
|---|---|---|
| See control note: |
The following strain(s) may also be appropriate experimental controls:
--mice from the moderate type II SMA strain (Stock No. 005025). | |
| 001800 FVB/NJ | (approximate) | |
| Considerations for Choosing Controls | ||
Related Strains
Spinal Muscular Atrophy (SMA) Models
View Spinal Muscular Atrophy (SMA) Models (49 strains)
017597 STOCK Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy Smn1tm1Msd Tg(SMN2)89Ahmb Tg(SMN2*delta7)4299Ahmb Tg(tetO-SMN2,-luc)#bAhmb/J
017599 STOCK Tg(tetO-SMN2,-luc)#aAhmb/J
008849 B6.129(C)-Smn1tm1.1Jme/J 006146 B6.129-Smn1tm1Jme/J 008453 B6.129-Smn1tm4(SMN2)Mrph/J 008714 B6.129-Smn1tm5(Smn1/SMN2)Mrph/J 009378 B6.129-Smn1tm6(SMN2)Mrph/J 007963 B6.Cg-Smn1tm2Mrph/J 007966 B6.Cg-Smn1tm3(SMN2/Smn1)Mrph/J 007246 B6;129-Smn1tm2Mrph/J 008383 B6;129-Smn1tm4(SMN2)Mrph/J 008384 B6;129-Smn1tm5(Smn1/SMN2)Mrph/J 008704 B6;129-Smn1tm6(SMN2)Mrph/J 006138 FVB.129(B6)-Smn1tm1Jme/J 008713 FVB.129(B6)-Smn1tm4(SMN2)Mrph/J 008604 FVB.129(B6)-Smn1tm5(Smn1/SMN2)Mrph/J 005058 FVB.Cg-Smn1tm1Hung Tg(SMN2)2Hung/J 007955 FVB.Cg-Smn1tm2Mrph/J 007964 FVB.Cg-Smn1tm3(SMN2/Smn1)Mrph/J 009381 FVB.Cg-Smn1tm6(SMN2)Mrph/J 013574 FVB/N-Tg(149m19)M141Kunst/J 007951 STOCK Smn1tm3(SMN2/Smn1)Mrph Tg(SMN2*delta7)4299Ahmb Tg(SMN2)89Ahmb/J 008783 STOCK Smn1tm3(SMN2/Smn1)Mrph Tg(SMN2*delta7)4299Ahmb Tg(SMN2)89Ahmb Tg(CAG-cre/Esr1*)5Amc/J
Additional Web Information
Reference Guide to Mouse Models of Spinal Muscular Atrophy manual [.pdf]
Fluorescent Proteins/lacZ Systems
Tet Expression Systems
Visit the Spinal Muscular Atrophy (SMA) Mouse Model Resource site for helpful information on SMA Disease and research resources.
Phenotype
Phenotype Information
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Spinal Muscular Atrophy, Type II; SMA2 (SMN1)
Spinal Muscular Atrophy, Type III; SMA3 (SMN1)
Spinal Muscular Atrophy, Type IV; SMA4 (SMN1)
This mouse can be used to support research in many areas including:
GFP relatedDevelopmental Biology Research
Neurodevelopmental Defects
Neurobiology Research
Ataxia (Movement) Defects
Fluorescent protein expression in neural tissue
Neurodegeneration
Spinal Muscular Atrophy (SMA)
Tet Expression System
tTA/rtTA Expressing Strains
tTA/rtTA Responsive Strains
Research Tools
Fluorescent Proteins
Genetics Research
Mutagenesis and Transgenesis: Tetop Tet System
Tissue/Cell Markers
Tissue/Cell Markers: multiple
Tissue/Cell Markers: neurons
Neurobiology Research
Tetop Tet System
cell marker
Tet Expression Systems
tTA/rtTA Expressing Strains
tTA/rtTA Responsive Strains
Smn1tm1Msd relatedResearch Tools
Fluorescent Proteins
Neurobiology Research
Spinal Muscular Atrophy (SMA)
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy | ||
|---|---|---|---|
| Allele Name | targeted mutation 1.1, Andras Nagy | ||
| Allele Type | Targeted (knock-in) | ||
| Common Name(s) | ROSA26rtTA; | ||
| Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl<+> | ||
| Expressed Gene | GFP, Green Fluorescent Protein, jellyfish | ||
| Green Fluorescent Protein (GFP), derived from the jellyfish Aequorea victoria, is a versatile reporter molecule which has found use in many biological applications. In some constructs the original molecule has been modified in order to enhance its fluorescence intensity (EGFP, enhanced GFP). When utilized in a transgenic construct, tissue expressing sufficient amounts of GFP will fluoresce when exposed to a 488 nm light source. | |||
| Molecular Note | A targeting vector containing a floxed Pgk-neo-pA cassette and a rtTA-IRES-EGFP-pA cassette was inserted into intron 1 of the locus. Cre-mediated recombination removed the floxed neo cassette allowing the ROSA26 promoter to drive expression of rtTA and EGFP. Presence of doxycycline results in the formation of an active transcriptional activator and the activation of the responder transgene. [MGI Ref ID J:174960] | ||
| Gene Symbol and Name | Gt(ROSA)26Sor, gene trap ROSA 26, Philippe Soriano | ||
| Chromosome | 6 | ||
| Gene Common Name(s) | AV258896; Gtrgeo26; Gtrosa26; R26; ROSA26; beta geo; expressed sequence AV258896; gene trap ROSA 26; gene trap ROSA b-geo 26; | ||
| Allele Symbol | Smn1tm1Msd | ||
| Allele Name | targeted mutation 1, Michael Sendtner | ||
| Allele Type | Targeted (Reporter) | ||
| Common Name(s) | SMN-; | ||
| Mutation Made By | Michael Sendtner, | ||
| Strain of Origin | 129P2/OlaHsd | ||
| ES Cell Line Name | E14TG2aIV | ||
| ES Cell Line Strain | 129P2/OlaHsd | ||
| Site of Expression | The expression of the lacZ gene in tissues where Smn is normally expressed was noted. | ||
| Expressed Gene | lacZ, beta-galactosidase, E. coli | ||
| 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. [MGI Ref ID J:42813] | ||
| Gene Symbol and Name | Smn1, survival motor neuron 1 | ||
| Chromosome | 13 | ||
| Gene Common Name(s) | AI849087; BCD541; C-BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4; SMA@; SMN; SMNC; SMNT; Smn; T-BCD541; TDRD16A; TDRD16B; expressed sequence AI849087; survival motor neuron; | ||
| Allele Symbol | Tg(SMN2)89Ahmb | ||
| Allele Name | transgene insertion 89, Arthur H M Burghes | ||
| Allele Type | Transgenic (random, expressed) | ||
| Common Name(s) | SMN2; | ||
| Mutation Made By | Arthur Burghes, Ohio State University | ||
| Strain of Origin | FVB/N | ||
| Site of Expression | Dendrites, axons, and soma of spinal motor neurons display distinct expression of GFP. GFP expression mimics endogenous HLXB9 expression pattern. Fluorscence is detected in axons, dendrites, and processes of spinal motor neurons at embryonic day 9.5 to postnatal day 10 aged mice. | ||
| Expressed Gene | SMN2, survival of motor neuron 2, centromeric, human | ||
| Promoter | SMN2, survival of motor neuron 2, centromeric, human | ||
| 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. [MGI Ref ID J:60592] | ||
| Allele Symbol | Tg(SMN2*delta7)4299Ahmb | ||
| Allele Name | transgene insertion 4299, Arthur H M Burghes | ||
| Allele Type | Transgenic (random, expressed) | ||
| Common Name(s) | SMNdelta7; Tg(SMN1*delta7)4299Ahmb; | ||
| Mutation Made By | Arthur Burghes, Ohio State University | ||
| Strain of Origin | FVB/N | ||
| Site of Expression | Dendrites, axons, and soma of spinal motor neurons display distinct expression of GFP. GFP expression mimics endogenous HLXB9 expression pattern. Fluorscence is detected in axons, dendrites, and processes of spinal motor neurons at embryonic day 9.5 to postnatal day 10 aged mice. | ||
| Expressed Gene | SMN2, survival of motor neuron 2, centromeric, human | ||
| Promoter | SMN2, survival of motor neuron 2, centromeric, human | ||
| Molecular Note | The transgene contains a human SMN2 promoter and a human SMN2 cDNA (SMNdelta7) that lacks exon 7. [MGI Ref ID J:97103] | ||
| Allele Symbol | Tg(tetO-SMN2,-luc)#aAhmb | ||
| Allele Name | transgene insertion, Arthur H M Burghes | ||
| Allele Type | Transgenic (random, expressed) | ||
| Common Name(s) | Luci-TRE-SMN; | ||
| Mutation Made By | Arthur Burghes, The Ohio State University | ||
| Strain of Origin | FVB/N | ||
| Site of Expression | Following 10 days of dox, western blot shows luciferase and human SMN expression in widespread tissues including muscle, brain, liver, heart, spinal cord, heart, kidney, lung, and spleen. In addition, dox induction results in increased SMN expression in motor neurons as well as gems within those motor neurons. | ||
| Expressed Gene | SMN2, survival of motor neuron 2, centromeric, human | ||
| Expressed Gene | luc, luciferase, firefly | ||
| Promoter | tetO, tet operator, | ||
| Molecular Note | The tetracycline response element with two minimal CMV promoters drives inducible expression of human SMN (exons 1 through 7) and a luciferase gene. Two lines were generated. The pound symbol (#) is used when no line is specified and/or lines are pooled. [MGI Ref ID J:174960] | ||
Genotyping
Genotyping Information
Genotyping Protocols
Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy,Separated MCA
Smn1tm1Msd,Separated MCA
Tg(SMN2)89Ahmb, Melt Curve Analysis
Tg(SMN2*delta7)4299Ahmb, QPCR
Tg(tetO-SMN,-luc)#Ahmb,Separated MCA
Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy, Separated PCR
Smn1tm1Msd, Separated PCR
Tg(SMN2)89Ahmb, Standard PCR
Tg(SMN2*delta7)4299Ahmb, Standard PCR
Tg(tetO-SMN,-luc)#Ahmb, Separated PCR
Helpful Links
Genotyping resources and troubleshooting
References
References provided by MGI
Selected Reference(s)
Le TT; McGovern VL; Alwine IE; Wang X; Massoni-Laporte A; Rich MM; Burghes AH. 2011. Temporal requirement for high SMN expression in SMA mice. Hum Mol Genet 20(18):3578-91. [PubMed: 21672919] [MGI Ref ID J:174960]
Additional References
Smn1tm1Msd relatedTg(SMN2)89Ahmb relatedAhmad S; Wang Y; Shaik GM; Burghes AH; Gangwani L. 2012. The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy. Hum Mol Genet 21(12):2745-58. [PubMed: 22422766] [MGI Ref ID J:184463]
Balasubramaniam V; Ryan SL; Seedorf GJ; Roth EV; Heumann TR; Yoder MC; Ingram DA; Hogan CJ; Markham NE; Abman SH. 2010. Bone marrow-derived angiogenic cells restore lung alveolar and vascular structure after neonatal hyperoxia in infant mice. Am J Physiol Lung Cell Mol Physiol 298(3):L315-23. [PubMed: 20008116] [MGI Ref ID J:157669]
Baumer D; Lee S; Nicholson G; Davies JL; Parkinson NJ; Murray LM; Gillingwater TH; Ansorge O; Davies KE; Talbot K. 2009. Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS Genet 5(12):e1000773. [PubMed: 20019802] [MGI Ref ID J:161744]
Bebee TW; Dominguez CE; Samadzadeh-Tarighat S; Akehurst KL; Chandler DS. 2012. Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model. Hum Mol Genet 21(19):4301-13. [PubMed: 22763238] [MGI Ref ID J:187404]
Bevan AK; Hutchinson KR; Foust KD; Braun L; McGovern VL; Schmelzer L; Ward JG; Petruska JC; Lucchesi PA; Burghes AH; Kaspar BK. 2010. Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery. Hum Mol Genet 19(20):3895-905. [PubMed: 20639395] [MGI Ref ID J:164456]
Bordet T. 2009. Generation of an SMN2 transgene (line 11) MGI Direct Data Submission :. [MGI Ref ID J:144852]
Bordet T. 2009. Generation of an SMN2 transgene (line 46) MGI Direct Data Submission :. [MGI Ref ID J:144853]
Bosch-Marce M; Wee CD; Martinez TL; Lipkes CE; Choe DW; Kong L; Van Meerbeke JP; Musaro A; Sumner CJ. 2011. Increased IGF-1 in muscle modulates the phenotype of severe SMA mice. Hum Mol Genet 20(9):1844-53. [PubMed: 21325354] [MGI Ref ID J:170476]
Bowerman M; Anderson CL; Beauvais A; Boyl PP; Witke W; Kothary R. 2009. SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis. Mol Cell Neurosci 42(1):66-74. [PubMed: 19497369] [MGI Ref ID J:154248]
Bowerman M; Beauvais A; Anderson CL; Kothary R. 2010. Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model. Hum Mol Genet 19(8):1468-78. [PubMed: 20097679] [MGI Ref ID J:158345]
Butchbach ME; Edwards JD; Burghes AH. 2007. Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy. Neurobiol Dis 27(2):207-19. [PubMed: 17561409] [MGI Ref ID J:134824]
Butchbach ME; Rose FF Jr; Rhoades S; Marston J; McCrone JT; Sinnott R; Lorson CL. 2010. Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy. Biochem Biophys Res Commun 391(1):835-40. [PubMed: 19945425] [MGI Ref ID J:156779]
Cobb MS; Rose FF; Rindt H; Glascock JJ; Shababi M; Miller MR; Osman EY; Yen PF; Garcia ML; Martin BR; Wetz MJ; Mazzasette C; Feng Z; Ko CP; Lorson CL. 2013. Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy. Hum Mol Genet 22(9):1843-55. [PubMed: 23390132] [MGI Ref ID J:194969]
Dale JM; Shen H; Barry DM; Garcia VB; Rose FF Jr; Lorson CL; Garcia ML. 2011. The spinal muscular atrophy mouse model, SMADelta7, displays altered axonal transport without global neurofilament alterations. Acta Neuropathol 122(3):331-41. [PubMed: 21681521] [MGI Ref ID J:176036]
Dominguez E; Marais T; Chatauret N; Benkhelifa-Ziyyat S; Duque S; Ravassard P; Carcenac R; Astord S; de Moura AP; Voit T; Barkats M. 2011. Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice. Hum Mol Genet 20(4):681-93. [PubMed: 21118896] [MGI Ref ID J:168716]
El-Khodor BF; Edgar N; Chen A; Winberg ML; Joyce C; Brunner D; Suarez-Farinas M; Heyes MP. 2008. Identification of a battery of tests for drug candidate evaluation in the SMNDelta7 neonate model of spinal muscular atrophy. Exp Neurol 212(1):29-43. [PubMed: 18455159] [MGI Ref ID J:137949]
Farooq F; Molina FA; Hadwen J; MacKenzie D; Witherspoon L; Osmond M; Holcik M; MacKenzie A. 2011. Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway. J Clin Invest 121(8):3042-50. [PubMed: 21785216] [MGI Ref ID J:176009]
Fulceri F; Bartalucci A; Paparelli S; Pasquali L; Biagioni F; Ferrucci M; Ruffoli R; Fornai F. 2012. Motor neuron pathology and behavioral alterations at late stages in a SMA mouse model. Brain Res 1442:66-75. [PubMed: 22306031] [MGI Ref ID J:181868]
Gavrilina TO; McGovern VL; Workman E; Crawford TO; Gogliotti RG; Didonato CJ; Monani UR; Morris GE; Burghes HM. 2008. Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle specific SMN expression has no phenotypic effect. Hum Mol Genet :. [PubMed: 18178576] [MGI Ref ID J:131663]
Gladman JT; Bebee TW; Edwards C; Wang X; Sahenk Z; Rich MM; Chandler DS. 2010. A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype. Hum Mol Genet 19(21):4239-52. [PubMed: 20705738] [MGI Ref ID J:164889]
Gogliotti RG; Lutz C; Jorgensen M; Huebsch K; Koh S; Didonato CJ. 2011. Characterization of a commonly used mouse model of SMA reveals increased seizure susceptibility and heightened fear response in FVB/N mice. Neurobiol Dis 43(1):142-51. [PubMed: 21396450] [MGI Ref ID J:174332]
Gogliotti RG; Quinlan KA; Barlow CB; Heier CR; Heckman CJ; Didonato CJ. 2012. Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction. J Neurosci 32(11):3818-29. [PubMed: 22423102] [MGI Ref ID J:183080]
Hayhurst M; Wagner AK; Cerletti M; Wagers AJ; Rubin LL. 2012. A cell-autonomous defect in skeletal muscle satellite cells expressing low levels of survival of motor neuron protein. Dev Biol 368(2):323-34. [PubMed: 22705478] [MGI Ref ID J:186551]
Heier CR; Satta R; Lutz C; DiDonato CJ. 2010. Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice. Hum Mol Genet 19(20):3906-18. [PubMed: 20693262] [MGI Ref ID J:164446]
Jablonka S; Beck M; Lechner BD; Mayer C; Sendtner M. 2007. Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy. J Cell Biol 179(1):139-49. [PubMed: 17923533] [MGI Ref ID J:134807]
Jablonka S; Holtmann B; Meister G; Bandilla M; Rossoll W; Fischer U; Sendtner M. 2002. Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death. Proc Natl Acad Sci U S A 99(15):10126-31. [PubMed: 12091709] [MGI Ref ID J:81784]
Jablonka S; Karle K; Sandner B; Andreassi C; von Au K; Sendtner M. 2006. Distinct and overlapping alterations in motor and sensory neurons in a mouse model of spinal muscular atrophy. Hum Mol Genet 15(3):511-8. [PubMed: 16396995] [MGI Ref ID J:105422]
Jablonka S; Schrank B; Kralewski M; Rossoll W; Sendtner M. 2000. Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III. Hum Mol Genet 9(3):341-6. [PubMed: 10655542] [MGI Ref ID J:60591]
Kariya S; Park GH; Maeno-Hikichi Y; Leykekhman O; Lutz C; Arkovitz MS; Landmesser LT; Monani UR. 2008. Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet 17(16):2552-69. [PubMed: 18492800] [MGI Ref ID J:138437]
Kariya S; Re DB; Jacquier A; Nelson K; Przedborski S; Monani UR. 2012. Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies. Hum Mol Genet 21(15):3421-34. [PubMed: 22581780] [MGI Ref ID J:185362]
Kong L; Wang X; Choe DW; Polley M; Burnett BG; Bosch-Marce M; Griffin JW; Rich MM; Sumner CJ. 2009. Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. J Neurosci 29(3):842-51. [PubMed: 19158308] [MGI Ref ID J:144843]
Kwon DY; Motley WW; Fischbeck KH; Burnett BG. 2011. Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice. Hum Mol Genet 20(18):3667-77. [PubMed: 21693563] [MGI Ref ID J:174791]
Le TT; Pham LT; Butchbach ME; Zhang HL; Monani UR; Coovert DD; Gavrilina TO; Xing L; Bassell GJ; Burghes AH. 2005. SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum Mol Genet 14(6):845-57. [PubMed: 15703193] [MGI Ref ID J:97103]
Lee YI; Mikesh M; Smith I; Rimer M; Thompson W. 2011. Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons. Dev Biol 356(2):432-44. [PubMed: 21658376] [MGI Ref ID J:175468]
Ling KK; Gibbs RM; Feng Z; Ko CP. 2012. Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy. Hum Mol Genet 21(1):185-95. [PubMed: 21968514] [MGI Ref ID J:178856]
Ling KK; Lin MY; Zingg B; Feng Z; Ko CP. 2010. Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy. PLoS One 5(11):e15457. [PubMed: 21085654] [MGI Ref ID J:166818]
Lotti F; Imlach WL; Saieva L; Beck ES; Hao le T; Li DK; Jiao W; Mentis GZ; Beattie CE; McCabe BD; Pellizzoni L. 2012. An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function. Cell 151(2):440-54. [PubMed: 23063131] [MGI Ref ID J:189067]
Lutz CM; Kariya S; Patruni S; Osborne MA; Liu D; Henderson CE; Li DK; Pellizzoni L; Rojas J; Valenzuela DM; Murphy AJ; Winberg ML; Monani UR. 2011. Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy. J Clin Invest 121(8):3029-41. [PubMed: 21785219] [MGI Ref ID J:176007]
McGovern VL; Gavrilina TO; Beattie CE; Burghes AH. 2008. Embryonic motor axon development in the severe SMA mouse. Hum Mol Genet 17(18):2900-9. [PubMed: 18603534] [MGI Ref ID J:138317]
Meyer K; Marquis J; Trub J; Nlend Nlend R; Verp S; Ruepp MD; Imboden H; Barde I; Trono D; Schumperli D. 2009. Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation. Hum Mol Genet 18(3):546-55. [PubMed: 19010792] [MGI Ref ID J:143540]
Michaud M; Arnoux T; Bielli S; Durand E; Rotrou Y; Jablonka S; Robert F; Giraudon-Paoli M; Riessland M; Mattei MG; Andriambeloson E; Wirth B; Sendtner M; Gallego J; Pruss RM; Bordet T. 2010. Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy. Neurobiol Dis 38(1):125-35. [PubMed: 20085811] [MGI Ref ID J:159930]
Monani UR; Pastore MT; Gavrilina TO; Jablonka S; Le TT; Andreassi C; DiCocco JM; Lorson C; Androphy EJ; Sendtner M; Podell M; Burghes AH. 2003. A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy. J Cell Biol 160(1):41-52. [PubMed: 12515823] [MGI Ref ID J:81238]
Monani UR; Sendtner M; Coovert DD; Parsons DW; Andreassi C; Le TT; Jablonka S; Schrank B; Rossol W; Prior TW; Morris GE; Burghes AH. 2000. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet 9(3):333-9. [PubMed: 10655541] [MGI Ref ID J:60592]
Murray LM; Comley LH; Thomson D; Parkinson N; Talbot K; Gillingwater TH. 2008. Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy. Hum Mol Genet 17(7):949-62. [PubMed: 18065780] [MGI Ref ID J:132467]
Murray LM; Lee S; Baumer D; Parson SH; Talbot K; Gillingwater TH. 2009. Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy. Hum Mol Genet :. [PubMed: 19884170] [MGI Ref ID J:155336]
Mutsaers CA; Wishart TM; Lamont DJ; Riessland M; Schreml J; Comley LH; Murray LM; Parson SH; Lochmuller H; Wirth B; Talbot K; Gillingwater TH. 2011. Reversible molecular pathology of skeletal muscle in spinal muscular atrophy. Hum Mol Genet 20(22):4334-44. [PubMed: 21840928] [MGI Ref ID J:176892]
Nolle A; Zeug A; van Bergeijk J; Tonges L; Gerhard R; Brinkmann H; Al Rayes S; Hensel N; Schill Y; Apkhazava D; Jablonka S; O Fmer J; Kumar Srivastav R; Baasner A; Lingor P; Wirth B; Ponimaskin E; Niedenthal R; Grothe C; Claus P. 2011. The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin. Hum Mol Genet :. [PubMed: 21920940] [MGI Ref ID J:177764]
Novoyatleva T; Heinrich B; Tang Y; Benderska N; Butchbach ME; Lorson CL; Lorson MA; Ben-Dov C; Fehlbaum P; Bracco L; Burghes AH; Bollen M; Stamm S. 2008. Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing. Hum Mol Genet 17(1):52-70. [PubMed: 17913700] [MGI Ref ID J:130114]
Park GH; Maeno-Hikichi Y; Awano T; Landmesser LT; Monani UR. 2010. Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene. J Neurosci 30(36):12005-19. [PubMed: 20826664] [MGI Ref ID J:164292]
Porensky PN; Mitrpant C; McGovern VL; Bevan AK; Foust KD; Kaspar BK; Wilton SD; Burghes AH. 2012. A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse. Hum Mol Genet 21(7):1625-38. [PubMed: 22186025] [MGI Ref ID J:181560]
Riessland M; Ackermann B; Forster A; Jakubik M; Hauke J; Garbes L; Fritzsche I; Mende Y; Blumcke I; Hahnen E; Wirth B. 2010. SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. Hum Mol Genet 19(8):1492-506. [PubMed: 20097677] [MGI Ref ID J:158347]
Rose FF Jr; Mattis VB; Rindt H; Lorson CL. 2009. Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy. Hum Mol Genet 18(6):997-1005. [PubMed: 19074460] [MGI Ref ID J:145746]
Rose FF Jr; Meehan PW; Coady TH; Garcia VB; Garcia ML; Lorson CL. 2008. The Wallerian degeneration slow (Wld(s)) gene does not attenuate disease in a mouse model of spinal muscular atrophy. Biochem Biophys Res Commun 375(1):119-23. [PubMed: 18680723] [MGI Ref ID J:140130]
Rossoll W; Jablonka S; Andreassi C; Kroning AK; Karle K; Monani UR; Sendtner M. 2003. Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons. J Cell Biol 163(4):801-12. [PubMed: 14623865] [MGI Ref ID J:86712]
Ruggiu M; McGovern VL; Lotti F; Saieva L; Li DK; Kariya S; Monani UR; Burghes AH; Pellizzoni L. 2012. A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy. Mol Cell Biol 32(1):126-38. [PubMed: 22037760] [MGI Ref ID J:183557]
Ruiz R; Casanas JJ; Torres-Benito L; Cano R; Tabares L. 2010. Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice. J Neurosci 30(3):849-57. [PubMed: 20089893] [MGI Ref ID J:157700]
Schrank B; Gotz R; Gunnersen JM; Ure JM; Toyka KV; Smith AG ; Sendtner M. 1997. Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc Natl Acad Sci U S A 94(18):9920-5. [PubMed: 9275227] [MGI Ref ID J:42813]
Shababi M; Habibi J; Yang HT; Vale SM; Sewell WA; Lorson CL. 2010. Cardiac defects contribute to the pathology of spinal muscular atrophy models. Hum Mol Genet 19(20):4059-71. [PubMed: 20696672] [MGI Ref ID J:164444]
Sleigh JN; Gillingwater TH; Talbot K. 2011. The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy. Dis Model Mech 4(4):457-67. [PubMed: 21708901] [MGI Ref ID J:175452]
Subramanian N; Wetzel A; Dombert B; Yadav P; Havlicek S; Jablonka S; Nassar MA; Blum R; Sendtner M. 2012. Role of Nav1.9 in activity-dependent axon growth in motoneurons. Hum Mol Genet 21(16):3655-67. [PubMed: 22641814] [MGI Ref ID J:185985]
Sumner CJ; Wee CD; Warsing LC; Choe DW; Ng AS; Lutz C; Wagner KR. 2009. Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice. Hum Mol Genet 18(17):3145-52. [PubMed: 19477958] [MGI Ref ID J:151438]
Thomson SR; Nahon JE; Mutsaers CA; Thomson D; Hamilton G; Parson SH; Gillingwater TH. 2012. Morphological characteristics of motor neurons do not determine their relative susceptibility to degeneration in a mouse model of severe spinal muscular atrophy. PLoS One 7(12):e52605. [PubMed: 23285108] [MGI Ref ID J:195758]
Turner BJ; Parkinson NJ; Davies KE; Talbot K. 2009. Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model. Neurobiol Dis 34(3):511-7. [PubMed: 19332122] [MGI Ref ID J:150474]
Walker MP; Rajendra TK; Saieva L; Fuentes JL; Pellizzoni L; Matera AG. 2008. SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain. Hum Mol Genet 17(21):3399-410. [PubMed: 18689355] [MGI Ref ID J:140332]
Wishart TM; Huang JP; Murray LM; Lamont DJ; Mutsaers CA; Ross J; Geldsetzer P; Ansorge O; Talbot K; Parson SH; Gillingwater TH. 2010. SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy. Hum Mol Genet 19(21):4216-28. [PubMed: 20705736] [MGI Ref ID J:164890]
Workman E; Saieva L; Carrel TL; Crawford TO; Liu D; Lutz C; Beattie CE; Pellizzoni L; Burghes AH. 2009. A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice. Hum Mol Genet 18(12):2215-29. [PubMed: 19329542] [MGI Ref ID J:148541]
Zhang H; Robinson N; Wu C; Wang W; Harrington MA. 2010. Electrophysiological properties of motor neurons in a mouse model of severe spinal muscular atrophy: in vitro versus in vivo development. PLoS One 5(7):e11696. [PubMed: 20657731] [MGI Ref ID J:163103]
Tg(SMN2*delta7)4299Ahmb relatedAhmad S; Wang Y; Shaik GM; Burghes AH; Gangwani L. 2012. The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy. Hum Mol Genet 21(12):2745-58. [PubMed: 22422766] [MGI Ref ID J:184463]
Avila AM; Burnett BG; Taye AA; Gabanella F; Knight MA; Hartenstein P; Cizman Z; Di Prospero NA; Pellizzoni L; Fischbeck KH; Sumner CJ. 2007. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest 117(3):659-71. [PubMed: 17318264] [MGI Ref ID J:120738]
Baumer D; Lee S; Nicholson G; Davies JL; Parkinson NJ; Murray LM; Gillingwater TH; Ansorge O; Davies KE; Talbot K. 2009. Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS Genet 5(12):e1000773. [PubMed: 20019802] [MGI Ref ID J:161744]
Bebee TW; Dominguez CE; Samadzadeh-Tarighat S; Akehurst KL; Chandler DS. 2012. Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model. Hum Mol Genet 21(19):4301-13. [PubMed: 22763238] [MGI Ref ID J:187404]
Bevan AK; Hutchinson KR; Foust KD; Braun L; McGovern VL; Schmelzer L; Ward JG; Petruska JC; Lucchesi PA; Burghes AH; Kaspar BK. 2010. Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery. Hum Mol Genet 19(20):3895-905. [PubMed: 20639395] [MGI Ref ID J:164456]
Bosch-Marce M; Wee CD; Martinez TL; Lipkes CE; Choe DW; Kong L; Van Meerbeke JP; Musaro A; Sumner CJ. 2011. Increased IGF-1 in muscle modulates the phenotype of severe SMA mice. Hum Mol Genet 20(9):1844-53. [PubMed: 21325354] [MGI Ref ID J:170476]
Bowerman M; Beauvais A; Anderson CL; Kothary R. 2010. Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model. Hum Mol Genet 19(8):1468-78. [PubMed: 20097679] [MGI Ref ID J:158345]
Butchbach ME; Edwards JD; Burghes AH. 2007. Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy. Neurobiol Dis 27(2):207-19. [PubMed: 17561409] [MGI Ref ID J:134824]
Butchbach ME; Rose FF Jr; Rhoades S; Marston J; McCrone JT; Sinnott R; Lorson CL. 2010. Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy. Biochem Biophys Res Commun 391(1):835-40. [PubMed: 19945425] [MGI Ref ID J:156779]
Cobb MS; Rose FF; Rindt H; Glascock JJ; Shababi M; Miller MR; Osman EY; Yen PF; Garcia ML; Martin BR; Wetz MJ; Mazzasette C; Feng Z; Ko CP; Lorson CL. 2013. Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy. Hum Mol Genet 22(9):1843-55. [PubMed: 23390132] [MGI Ref ID J:194969]
Dale JM; Shen H; Barry DM; Garcia VB; Rose FF Jr; Lorson CL; Garcia ML. 2011. The spinal muscular atrophy mouse model, SMADelta7, displays altered axonal transport without global neurofilament alterations. Acta Neuropathol 122(3):331-41. [PubMed: 21681521] [MGI Ref ID J:176036]
Dominguez E; Marais T; Chatauret N; Benkhelifa-Ziyyat S; Duque S; Ravassard P; Carcenac R; Astord S; de Moura AP; Voit T; Barkats M. 2011. Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice. Hum Mol Genet 20(4):681-93. [PubMed: 21118896] [MGI Ref ID J:168716]
Farooq F; Molina FA; Hadwen J; MacKenzie D; Witherspoon L; Osmond M; Holcik M; MacKenzie A. 2011. Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway. J Clin Invest 121(8):3042-50. [PubMed: 21785216] [MGI Ref ID J:176009]
Fulceri F; Bartalucci A; Paparelli S; Pasquali L; Biagioni F; Ferrucci M; Ruffoli R; Fornai F. 2012. Motor neuron pathology and behavioral alterations at late stages in a SMA mouse model. Brain Res 1442:66-75. [PubMed: 22306031] [MGI Ref ID J:181868]
Gavrilina TO; McGovern VL; Workman E; Crawford TO; Gogliotti RG; Didonato CJ; Monani UR; Morris GE; Burghes HM. 2008. Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle specific SMN expression has no phenotypic effect. Hum Mol Genet :. [PubMed: 18178576] [MGI Ref ID J:131663]
Gogliotti RG; Lutz C; Jorgensen M; Huebsch K; Koh S; Didonato CJ. 2011. Characterization of a commonly used mouse model of SMA reveals increased seizure susceptibility and heightened fear response in FVB/N mice. Neurobiol Dis 43(1):142-51. [PubMed: 21396450] [MGI Ref ID J:174332]
Gogliotti RG; Quinlan KA; Barlow CB; Heier CR; Heckman CJ; Didonato CJ. 2012. Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction. J Neurosci 32(11):3818-29. [PubMed: 22423102] [MGI Ref ID J:183080]
Hayhurst M; Wagner AK; Cerletti M; Wagers AJ; Rubin LL. 2012. A cell-autonomous defect in skeletal muscle satellite cells expressing low levels of survival of motor neuron protein. Dev Biol 368(2):323-34. [PubMed: 22705478] [MGI Ref ID J:186551]
Heier CR; Satta R; Lutz C; DiDonato CJ. 2010. Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice. Hum Mol Genet 19(20):3906-18. [PubMed: 20693262] [MGI Ref ID J:164446]
Jablonka S; Beck M; Lechner BD; Mayer C; Sendtner M. 2007. Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy. J Cell Biol 179(1):139-49. [PubMed: 17923533] [MGI Ref ID J:134807]
Jablonka S; Karle K; Sandner B; Andreassi C; von Au K; Sendtner M. 2006. Distinct and overlapping alterations in motor and sensory neurons in a mouse model of spinal muscular atrophy. Hum Mol Genet 15(3):511-8. [PubMed: 16396995] [MGI Ref ID J:105422]
Kariya S; Park GH; Maeno-Hikichi Y; Leykekhman O; Lutz C; Arkovitz MS; Landmesser LT; Monani UR. 2008. Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet 17(16):2552-69. [PubMed: 18492800] [MGI Ref ID J:138437]
Kong L; Wang X; Choe DW; Polley M; Burnett BG; Bosch-Marce M; Griffin JW; Rich MM; Sumner CJ. 2009. Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. J Neurosci 29(3):842-51. [PubMed: 19158308] [MGI Ref ID J:144843]
Le TT; Pham LT; Butchbach ME; Zhang HL; Monani UR; Coovert DD; Gavrilina TO; Xing L; Bassell GJ; Burghes AH. 2005. SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum Mol Genet 14(6):845-57. [PubMed: 15703193] [MGI Ref ID J:97103]
Lee YI; Mikesh M; Smith I; Rimer M; Thompson W. 2011. Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons. Dev Biol 356(2):432-44. [PubMed: 21658376] [MGI Ref ID J:175468]
Ling KK; Gibbs RM; Feng Z; Ko CP. 2012. Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy. Hum Mol Genet 21(1):185-95. [PubMed: 21968514] [MGI Ref ID J:178856]
Ling KK; Lin MY; Zingg B; Feng Z; Ko CP. 2010. Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy. PLoS One 5(11):e15457. [PubMed: 21085654] [MGI Ref ID J:166818]
Lotti F; Imlach WL; Saieva L; Beck ES; Hao le T; Li DK; Jiao W; Mentis GZ; Beattie CE; McCabe BD; Pellizzoni L. 2012. An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function. Cell 151(2):440-54. [PubMed: 23063131] [MGI Ref ID J:189067]
Lutz CM; Kariya S; Patruni S; Osborne MA; Liu D; Henderson CE; Li DK; Pellizzoni L; Rojas J; Valenzuela DM; Murphy AJ; Winberg ML; Monani UR. 2011. Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy. J Clin Invest 121(8):3029-41. [PubMed: 21785219] [MGI Ref ID J:176007]
McGovern VL; Gavrilina TO; Beattie CE; Burghes AH. 2008. Embryonic motor axon development in the severe SMA mouse. Hum Mol Genet 17(18):2900-9. [PubMed: 18603534] [MGI Ref ID J:138317]
Meyer K; Marquis J; Trub J; Nlend Nlend R; Verp S; Ruepp MD; Imboden H; Barde I; Trono D; Schumperli D. 2009. Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation. Hum Mol Genet 18(3):546-55. [PubMed: 19010792] [MGI Ref ID J:143540]
Monani UR; Pastore MT; Gavrilina TO; Jablonka S; Le TT; Andreassi C; DiCocco JM; Lorson C; Androphy EJ; Sendtner M; Podell M; Burghes AH. 2003. A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy. J Cell Biol 160(1):41-52. [PubMed: 12515823] [MGI Ref ID J:81238]
Monani UR; Sendtner M; Coovert DD; Parsons DW; Andreassi C; Le TT; Jablonka S; Schrank B; Rossol W; Prior TW; Morris GE; Burghes AH. 2000. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet 9(3):333-9. [PubMed: 10655541] [MGI Ref ID J:60592]
Murray LM; Comley LH; Thomson D; Parkinson N; Talbot K; Gillingwater TH. 2008. Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy. Hum Mol Genet 17(7):949-62. [PubMed: 18065780] [MGI Ref ID J:132467]
Murray LM; Lee S; Baumer D; Parson SH; Talbot K; Gillingwater TH. 2009. Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy. Hum Mol Genet :. [PubMed: 19884170] [MGI Ref ID J:155336]
Mutsaers CA; Wishart TM; Lamont DJ; Riessland M; Schreml J; Comley LH; Murray LM; Parson SH; Lochmuller H; Wirth B; Talbot K; Gillingwater TH. 2011. Reversible molecular pathology of skeletal muscle in spinal muscular atrophy. Hum Mol Genet 20(22):4334-44. [PubMed: 21840928] [MGI Ref ID J:176892]
Nolle A; Zeug A; van Bergeijk J; Tonges L; Gerhard R; Brinkmann H; Al Rayes S; Hensel N; Schill Y; Apkhazava D; Jablonka S; O Fmer J; Kumar Srivastav R; Baasner A; Lingor P; Wirth B; Ponimaskin E; Niedenthal R; Grothe C; Claus P. 2011. The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin. Hum Mol Genet :. [PubMed: 21920940] [MGI Ref ID J:177764]
Novoyatleva T; Heinrich B; Tang Y; Benderska N; Butchbach ME; Lorson CL; Lorson MA; Ben-Dov C; Fehlbaum P; Bracco L; Burghes AH; Bollen M; Stamm S. 2008. Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing. Hum Mol Genet 17(1):52-70. [PubMed: 17913700] [MGI Ref ID J:130114]
Park GH; Maeno-Hikichi Y; Awano T; Landmesser LT; Monani UR. 2010. Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene. J Neurosci 30(36):12005-19. [PubMed: 20826664] [MGI Ref ID J:164292]
Porensky PN; Mitrpant C; McGovern VL; Bevan AK; Foust KD; Kaspar BK; Wilton SD; Burghes AH. 2012. A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse. Hum Mol Genet 21(7):1625-38. [PubMed: 22186025] [MGI Ref ID J:181560]
Riessland M; Ackermann B; Forster A; Jakubik M; Hauke J; Garbes L; Fritzsche I; Mende Y; Blumcke I; Hahnen E; Wirth B. 2010. SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. Hum Mol Genet 19(8):1492-506. [PubMed: 20097677] [MGI Ref ID J:158347]
Rose FF Jr; Mattis VB; Rindt H; Lorson CL. 2009. Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy. Hum Mol Genet 18(6):997-1005. [PubMed: 19074460] [MGI Ref ID J:145746]
Rossoll W; Jablonka S; Andreassi C; Kroning AK; Karle K; Monani UR; Sendtner M. 2003. Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons. J Cell Biol 163(4):801-12. [PubMed: 14623865] [MGI Ref ID J:86712]
Ruggiu M; McGovern VL; Lotti F; Saieva L; Li DK; Kariya S; Monani UR; Burghes AH; Pellizzoni L. 2012. A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy. Mol Cell Biol 32(1):126-38. [PubMed: 22037760] [MGI Ref ID J:183557]
Ruiz R; Casanas JJ; Torres-Benito L; Cano R; Tabares L. 2010. Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice. J Neurosci 30(3):849-57. [PubMed: 20089893] [MGI Ref ID J:157700]
Sanchez G; Dury AY; Murray LM; Biondi O; Tadesse H; El Fatimy R; Kothary R; Charbonnier F; Khandjian EW; Cote J. 2013. A novel function for the survival motoneuron protein as a translational regulator. Hum Mol Genet 22(4):668-84. [PubMed: 23136128] [MGI Ref ID J:191211]
Shababi M; Habibi J; Yang HT; Vale SM; Sewell WA; Lorson CL. 2010. Cardiac defects contribute to the pathology of spinal muscular atrophy models. Hum Mol Genet 19(20):4059-71. [PubMed: 20696672] [MGI Ref ID J:164444]
Sleigh JN; Gillingwater TH; Talbot K. 2011. The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy. Dis Model Mech 4(4):457-67. [PubMed: 21708901] [MGI Ref ID J:175452]
Subramanian N; Wetzel A; Dombert B; Yadav P; Havlicek S; Jablonka S; Nassar MA; Blum R; Sendtner M. 2012. Role of Nav1.9 in activity-dependent axon growth in motoneurons. Hum Mol Genet 21(16):3655-67. [PubMed: 22641814] [MGI Ref ID J:185985]
Sumner CJ; Wee CD; Warsing LC; Choe DW; Ng AS; Lutz C; Wagner KR. 2009. Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice. Hum Mol Genet 18(17):3145-52. [PubMed: 19477958] [MGI Ref ID J:151438]
Thomson SR; Nahon JE; Mutsaers CA; Thomson D; Hamilton G; Parson SH; Gillingwater TH. 2012. Morphological characteristics of motor neurons do not determine their relative susceptibility to degeneration in a mouse model of severe spinal muscular atrophy. PLoS One 7(12):e52605. [PubMed: 23285108] [MGI Ref ID J:195758]
Torres-Benito L; Neher MF; Cano R; Ruiz R; Tabares L. 2011. SMN requirement for synaptic vesicle, active zone and microtubule postnatal organization in motor nerve terminals. PLoS One 6(10):e26164. [PubMed: 22022549] [MGI Ref ID J:179582]
Turner BJ; Parkinson NJ; Davies KE; Talbot K. 2009. Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model. Neurobiol Dis 34(3):511-7. [PubMed: 19332122] [MGI Ref ID J:150474]
Walker MP; Rajendra TK; Saieva L; Fuentes JL; Pellizzoni L; Matera AG. 2008. SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain. Hum Mol Genet 17(21):3399-410. [PubMed: 18689355] [MGI Ref ID J:140332]
Wishart TM; Huang JP; Murray LM; Lamont DJ; Mutsaers CA; Ross J; Geldsetzer P; Ansorge O; Talbot K; Parson SH; Gillingwater TH. 2010. SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy. Hum Mol Genet 19(21):4216-28. [PubMed: 20705736] [MGI Ref ID J:164890]
Workman E; Saieva L; Carrel TL; Crawford TO; Liu D; Lutz C; Beattie CE; Pellizzoni L; Burghes AH. 2009. A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice. Hum Mol Genet 18(12):2215-29. [PubMed: 19329542] [MGI Ref ID J:148541]
Zhang H; Robinson N; Wu C; Wang W; Harrington MA. 2010. Electrophysiological properties of motor neurons in a mouse model of severe spinal muscular atrophy: in vitro versus in vivo development. PLoS One 5(7):e11696. [PubMed: 20657731] [MGI Ref ID J:163103]
Ahmad S; Wang Y; Shaik GM; Burghes AH; Gangwani L. 2012. The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy. Hum Mol Genet 21(12):2745-58. [PubMed: 22422766] [MGI Ref ID J:184463]
Avila AM; Burnett BG; Taye AA; Gabanella F; Knight MA; Hartenstein P; Cizman Z; Di Prospero NA; Pellizzoni L; Fischbeck KH; Sumner CJ. 2007. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest 117(3):659-71. [PubMed: 17318264] [MGI Ref ID J:120738]
Baumer D; Lee S; Nicholson G; Davies JL; Parkinson NJ; Murray LM; Gillingwater TH; Ansorge O; Davies KE; Talbot K. 2009. Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS Genet 5(12):e1000773. [PubMed: 20019802] [MGI Ref ID J:161744]
Bebee TW; Dominguez CE; Samadzadeh-Tarighat S; Akehurst KL; Chandler DS. 2012. Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model. Hum Mol Genet 21(19):4301-13. [PubMed: 22763238] [MGI Ref ID J:187404]
Bosch-Marce M; Wee CD; Martinez TL; Lipkes CE; Choe DW; Kong L; Van Meerbeke JP; Musaro A; Sumner CJ. 2011. Increased IGF-1 in muscle modulates the phenotype of severe SMA mice. Hum Mol Genet 20(9):1844-53. [PubMed: 21325354] [MGI Ref ID J:170476]
Bricceno KV; Sampognaro PJ; Van Meerbeke JP; Sumner CJ; Fischbeck KH; Burnett BG. 2012. Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice. Hum Mol Genet 21(20):4448-59. [PubMed: 22798624] [MGI Ref ID J:187753]
Butchbach ME; Edwards JD; Burghes AH. 2007. Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy. Neurobiol Dis 27(2):207-19. [PubMed: 17561409] [MGI Ref ID J:134824]
Butchbach ME; Rose FF Jr; Rhoades S; Marston J; McCrone JT; Sinnott R; Lorson CL. 2010. Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy. Biochem Biophys Res Commun 391(1):835-40. [PubMed: 19945425] [MGI Ref ID J:156779]
Dale JM; Shen H; Barry DM; Garcia VB; Rose FF Jr; Lorson CL; Garcia ML. 2011. The spinal muscular atrophy mouse model, SMADelta7, displays altered axonal transport without global neurofilament alterations. Acta Neuropathol 122(3):331-41. [PubMed: 21681521] [MGI Ref ID J:176036]
Dominguez E; Marais T; Chatauret N; Benkhelifa-Ziyyat S; Duque S; Ravassard P; Carcenac R; Astord S; de Moura AP; Voit T; Barkats M. 2011. Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice. Hum Mol Genet 20(4):681-93. [PubMed: 21118896] [MGI Ref ID J:168716]
Farooq F; Molina FA; Hadwen J; MacKenzie D; Witherspoon L; Osmond M; Holcik M; MacKenzie A. 2011. Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway. J Clin Invest 121(8):3042-50. [PubMed: 21785216] [MGI Ref ID J:176009]
Heier CR; Satta R; Lutz C; DiDonato CJ. 2010. Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice. Hum Mol Genet 19(20):3906-18. [PubMed: 20693262] [MGI Ref ID J:164446]
Kariya S; Park GH; Maeno-Hikichi Y; Leykekhman O; Lutz C; Arkovitz MS; Landmesser LT; Monani UR. 2008. Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet 17(16):2552-69. [PubMed: 18492800] [MGI Ref ID J:138437]
Kong L; Wang X; Choe DW; Polley M; Burnett BG; Bosch-Marce M; Griffin JW; Rich MM; Sumner CJ. 2009. Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. J Neurosci 29(3):842-51. [PubMed: 19158308] [MGI Ref ID J:144843]
Kwon DY; Motley WW; Fischbeck KH; Burnett BG. 2011. Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice. Hum Mol Genet 20(18):3667-77. [PubMed: 21693563] [MGI Ref ID J:174791]
Le TT; Pham LT; Butchbach ME; Zhang HL; Monani UR; Coovert DD; Gavrilina TO; Xing L; Bassell GJ; Burghes AH. 2005. SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum Mol Genet 14(6):845-57. [PubMed: 15703193] [MGI Ref ID J:97103]
Lee YI; Mikesh M; Smith I; Rimer M; Thompson W. 2011. Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons. Dev Biol 356(2):432-44. [PubMed: 21658376] [MGI Ref ID J:175468]
Ling KK; Gibbs RM; Feng Z; Ko CP. 2012. Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy. Hum Mol Genet 21(1):185-95. [PubMed: 21968514] [MGI Ref ID J:178856]
Ling KK; Lin MY; Zingg B; Feng Z; Ko CP. 2010. Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy. PLoS One 5(11):e15457. [PubMed: 21085654] [MGI Ref ID J:166818]
Lotti F; Imlach WL; Saieva L; Beck ES; Hao le T; Li DK; Jiao W; Mentis GZ; Beattie CE; McCabe BD; Pellizzoni L. 2012. An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function. Cell 151(2):440-54. [PubMed: 23063131] [MGI Ref ID J:189067]
Lutz CM; Kariya S; Patruni S; Osborne MA; Liu D; Henderson CE; Li DK; Pellizzoni L; Rojas J; Valenzuela DM; Murphy AJ; Winberg ML; Monani UR. 2011. Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy. J Clin Invest 121(8):3029-41. [PubMed: 21785219] [MGI Ref ID J:176007]
Murray LM; Comley LH; Thomson D; Parkinson N; Talbot K; Gillingwater TH. 2008. Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy. Hum Mol Genet 17(7):949-62. [PubMed: 18065780] [MGI Ref ID J:132467]
Murray LM; Lee S; Baumer D; Parson SH; Talbot K; Gillingwater TH. 2009. Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy. Hum Mol Genet :. [PubMed: 19884170] [MGI Ref ID J:155336]
Porensky PN; Mitrpant C; McGovern VL; Bevan AK; Foust KD; Kaspar BK; Wilton SD; Burghes AH. 2012. A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse. Hum Mol Genet 21(7):1625-38. [PubMed: 22186025] [MGI Ref ID J:181560]
Rose FF Jr; Mattis VB; Rindt H; Lorson CL. 2009. Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy. Hum Mol Genet 18(6):997-1005. [PubMed: 19074460] [MGI Ref ID J:145746]
Ruggiu M; McGovern VL; Lotti F; Saieva L; Li DK; Kariya S; Monani UR; Burghes AH; Pellizzoni L. 2012. A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy. Mol Cell Biol 32(1):126-38. [PubMed: 22037760] [MGI Ref ID J:183557]
Ruiz R; Casanas JJ; Torres-Benito L; Cano R; Tabares L. 2010. Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice. J Neurosci 30(3):849-57. [PubMed: 20089893] [MGI Ref ID J:157700]
Sanchez G; Dury AY; Murray LM; Biondi O; Tadesse H; El Fatimy R; Kothary R; Charbonnier F; Khandjian EW; Cote J. 2013. A novel function for the survival motoneuron protein as a translational regulator. Hum Mol Genet 22(4):668-84. [PubMed: 23136128] [MGI Ref ID J:191211]
Shababi M; Habibi J; Ma L; Glascock JJ; Sowers JR; Lorson CL. 2012. Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy. J Mol Cell Cardiol 52(5):1074-82. [PubMed: 22285962] [MGI Ref ID J:183695]
Shababi M; Habibi J; Yang HT; Vale SM; Sewell WA; Lorson CL. 2010. Cardiac defects contribute to the pathology of spinal muscular atrophy models. Hum Mol Genet 19(20):4059-71. [PubMed: 20696672] [MGI Ref ID J:164444]
Sleigh JN; Gillingwater TH; Talbot K. 2011. The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy. Dis Model Mech 4(4):457-67. [PubMed: 21708901] [MGI Ref ID J:175452]
Sumner CJ; Wee CD; Warsing LC; Choe DW; Ng AS; Lutz C; Wagner KR. 2009. Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice. Hum Mol Genet 18(17):3145-52. [PubMed: 19477958] [MGI Ref ID J:151438]
Torres-Benito L; Neher MF; Cano R; Ruiz R; Tabares L. 2011. SMN requirement for synaptic vesicle, active zone and microtubule postnatal organization in motor nerve terminals. PLoS One 6(10):e26164. [PubMed: 22022549] [MGI Ref ID J:179582]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Room Number AX12
Colony Maintenance
Breeding & Husbandry For routine maintenance of the live colony, mice of the following genotype may be bred together: homozygous for Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy, heterozygous or homozygous for Smn1tm1Msd, homozygous for Tg(SMN2)89, homozygous for the Tg(SMNΔ7)4299, and hemizygous or homozygous for Tg(tetO-SMN2,-luc)#a. Mating System See Colony Maintenance under the Health & husbandry tab (Female x Male) 07-AUG-12
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
This strain is currently Under Development - Now Accepting Orders.
Estimated Available for Distribution Date:
27-MAY-13
Please note: You may now place orders for this strain although it is not yet ready for distribution. Estimated available for distribution dates are provided to keep customers better informed on strains under development. Please note that our Colony Managers routinely monitor the target date and edit it based on breeding performance and other factors. The length of time it takes to make a new strain available for distribution depends on genotype, age, number of animals sent by the Donating Investigator, breeding performance, additional strain development (backcrossing, making homozygous), and anticipated demand for the strain.
| Pricing for USA, Canada and Mexico shipping destinations |
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Live Mice
Price per mouse (US dollars $) Gender Genotypes Provided Individual Mouse $232.00 Female or Male Homozygous for Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy, Heterozygous for Smn1tm1Msd, Homozygous for Tg(SMN2)89Ahmb, Homozygous for Tg(SMN2*delta7)4299Ahmb, Homozygous for Tg(tetO-SMN2,-luc)#aAhmb
Price per Pair (US dollars $) Pair Genotype $464.00 Homozygous for Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy, Heterozygous for Smn1tm1Msd, Homozygous for Tg(SMN2)89Ahmb, Homozygous for Tg(SMN2*delta7)4299Ahmb, Homozygous for Tg(tetO-SMN2,-luc)#aAhmb x Homozygous for Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy, Heterozygous for Smn1tm1Msd, Homozygous for Tg(SMN2)89Ahmb, Homozygous for Tg(SMN2*delta7)4299Ahmb, Homozygous for Tg(tetO-SMN2,-luc)#aAhmb Standard Supply
Under Development - Now Accepting Orders The strain development process (i.e. importation, rederivation, and colony expansion) usually takes six to nine months.
| Pricing for International shipping destinations |
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Live Mice
Price per mouse (US dollars $) Gender Genotypes Provided Individual Mouse $301.60 Female or Male Homozygous for Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy, Heterozygous for Smn1tm1Msd, Homozygous for Tg(SMN2)89Ahmb, Homozygous for Tg(SMN2*delta7)4299Ahmb, Homozygous for Tg(tetO-SMN2,-luc)#aAhmb
Price per Pair (US dollars $) Pair Genotype $603.20 Homozygous for Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy, Heterozygous for Smn1tm1Msd, Homozygous for Tg(SMN2)89Ahmb, Homozygous for Tg(SMN2*delta7)4299Ahmb, Homozygous for Tg(tetO-SMN2,-luc)#aAhmb x Homozygous for Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy, Heterozygous for Smn1tm1Msd, Homozygous for Tg(SMN2)89Ahmb, Homozygous for Tg(SMN2*delta7)4299Ahmb, Homozygous for Tg(tetO-SMN2,-luc)#aAhmb Standard Supply
Under Development - Now Accepting Orders The strain development process (i.e. importation, rederivation, and colony expansion) usually takes six to nine months.
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Standard Supply
Under Development - Now Accepting Orders The strain development process (i.e. importation, rederivation, and colony expansion) usually takes six to nine months.
Control Information
| Control | ||
|---|---|---|
| See control note: |
The following strain(s) may also be appropriate experimental controls:
--mice from the moderate type II SMA strain (Stock No. 005025). | |
| 001800 FVB/NJ | (approximate) | |
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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See Terms of Use tab for General Terms and Conditions
The Jackson Laboratory's Genotype Promise
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.Ordering Information
JAX® Mice
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Tel: 1-800-422-6423 or 1-207-288-5845
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Terms of Use
Terms of Use
General Terms and Conditions
For Licensing and Use Restrictions view the link(s) below:
- Use of MICE by companies or for-profit entities requires a license prior to shipping.
- Use of MICE by companies or for-profit entities requires a license prior to shipping.
- Use of MICE by companies or for-profit entities requires a license prior to shipping.
Contact information
General inquiries regarding Terms of UseContracts Administration
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
JAX® Mice, Products & Services Conditions of Use
"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.No Warranty
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In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.
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In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.
MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.
The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.
Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.