Strain Name:

STOCK Tg(SMN2)89Ahmb Smn1tm3(SMN2/Smn1)Mrph Tg(SMN2*delta7)4299Ahmb/J

Stock Number:

007951

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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. 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.

Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names STOCK Smn1tm3(SMN2/Smn1)Mrph Tg(SMN2*delta7)4299Ahmb Tg(SMN2)89Ahmb/J    (Changed: 18-JUL-13 )
STOCK Smn1tm1Msd Smn1tm3(SMN2/Smn1/SMN2)Mrph Tg(SMN2*delta7)4299Ahmb Tg(SMN2)89Ahmb/J    (Changed: 18-JUN-08 )
Type Mutant Stock; Targeted Mutation; Transgenic;
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Specieslaboratory mouse
 
Donating Investigator IMR Colony,   The Jackson Laboratory

Description
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.

Development
The transgenic alleles were created in the laboratory of Dr. Arthur Burghes at Ohio State University. A 35.5 kb BamHI genomic fragment encoding the human SMN2 (survival of motor neuron 2, centromeric) promoter and gene (derived from genomic clone PAC215P15) was injected into fertilized FVB/N mouse oocytes and founder animal 89 was obtained. Similarly, a human SMN2 cDNA (SMNdelta7) lacking exon 7 under the control of the human SMN2 promoter was microinjected into fertilized FVB/N oocytes and founder animal 4299 was obtained. These double mutants were in turn mated with mice bearing the Smn1tm3(SMN2/Smn1/SMN2)Mrph targeted mutation. The 129S6/SvEvTac X C57BL/6Tac hybrid derived F1H4 ES cell line was used to generate the targeted mutation.

Control Information

  Control
   Wild-type male from the colony
 
  Considerations for Choosing Controls

Related Strains

Spinal Muscular Atrophy (SMA) Models
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
010921   B6.129P2(Cg)-Smn1tm1Msd/J
018439   B6.129S6-Tg(CAG-Bgeo,-SMN2)E9Dscd/J
009680   B6.B-Vps54wr/J
007963   B6.Cg-Smn1tm2Mrph/J
007966   B6.Cg-Smn1tm3(SMN2/Smn1)Mrph/J
006149   B6.Cg-Tg(ACTA1-cre)79Jme/J
006663   B6.Cg-Tg(Eno2-cre)39Jme/J
008629   B6.Cg-Tg(SMN2)11Tro Smn1tm1Msd/J
008631   B6.Cg-Tg(SMN2)11Tro Tg(SMN2)46Tro Smn1tm1Msd/J
008630   B6.Cg-Tg(SMN2)46Tro Smn1tm1Msd/J
007222   B6.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN1*A2G)2023Ahmb/J
006964   B6.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb/J
006773   B6.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd/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
006214   FVB.129P2-Smn1tm1Msd/J
005058   FVB.Cg-Smn1tm1Hung Tg(SMN2)2Hung/J
008206   FVB.Cg-Smn1tm1Msd Tg(SMN2)566Ahmb/J
007955   FVB.Cg-Smn1tm2Mrph/J
007964   FVB.Cg-Smn1tm3(SMN2/Smn1)Mrph/J
009381   FVB.Cg-Smn1tm6(SMN2)Mrph/J
012252   FVB.Cg-Tbcepmn/J
006139   FVB.Cg-Tg(ACTA1-cre)79Jme/J
006297   FVB.Cg-Tg(Eno2-cre)39Jme/J
008209   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(ACTA1-SMN)69Ahmb/J
016573   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(S100B-EGFP)1Wjt Tg(SMN2*delta7)4299Ahmb/J
007968   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN1*A2G)2023Ahmb/2J
008782   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*A111G)588Ahmb/J
009134   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*A111G)591Ahmb/J
007952   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb/2J
005025   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb/J
005026   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN1*A2G)2023Ahmb/J
007949   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd/2J
005024   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd/J
009682   NMRI-Tbcepmn/J
017596   STOCK Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb Tg(tetO-SMN2,-luc)#aAhmb/J
017597   STOCK Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb Tg(tetO-SMN2,-luc)#bAhmb/J
007022   STOCK Mnx1tm4(cre)Tmj Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb/J
008783   STOCK Tg(CAG-cre/Esr1*)5Amc Smn1tm3(SMN2/Smn1)Mrph Tg(SMN2*delta7)4299Ahmb Tg(SMN2)89Ahmb/J
005938   STOCK Tg(Eno2-cre)39Jme/J
008203   STOCK Tg(SMN2)89Ahmb Smn1tm1Msd Tg(ACTA1-SMN)63Ahmb/J
006553   STOCK Tg(SMN2)89Ahmb Smn1tm1Msd Tg(H2-K1-tsA58)6Kio Tg(SMN2*delta7)4299Ahmb/J
006570   STOCK Tg(SMN2)89Ahmb Smn1tm1Msd Tg(Hlxb9-GFP)1Tmj/J
008212   STOCK Tg(SMN2)89Ahmb Smn1tm1Msd Tg(Prnp-SMN)92Ahmb/J
008359   STOCK Tg(SMN2)89Ahmb Smn1tm3(SMN2/Smn1)Mrph/J
017599   STOCK Tg(tetO-SMN2,-luc)#aAhmb/J
017600   STOCK Tg(tetO-SMN2,-luc)#bAhmb/J
View Spinal Muscular Atrophy (SMA) Models     (57 strains)

View Strains carrying   Smn1tm3(SMN2/Smn1)Mrph     (4 strains)

Strains carrying   Tg(SMN2)89Ahmb allele
007222   B6.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN1*A2G)2023Ahmb/J
006964   B6.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb/J
006773   B6.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd/J
008209   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(ACTA1-SMN)69Ahmb/J
016573   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(S100B-EGFP)1Wjt Tg(SMN2*delta7)4299Ahmb/J
007968   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN1*A2G)2023Ahmb/2J
008782   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*A111G)588Ahmb/J
009134   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*A111G)591Ahmb/J
007952   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb/2J
005025   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb/J
005026   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN1*A2G)2023Ahmb/J
007949   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd/2J
005024   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd/J
017596   STOCK Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb Tg(tetO-SMN2,-luc)#aAhmb/J
017597   STOCK Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb Tg(tetO-SMN2,-luc)#bAhmb/J
007022   STOCK Mnx1tm4(cre)Tmj Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb/J
008783   STOCK Tg(CAG-cre/Esr1*)5Amc Smn1tm3(SMN2/Smn1)Mrph Tg(SMN2*delta7)4299Ahmb Tg(SMN2)89Ahmb/J
008203   STOCK Tg(SMN2)89Ahmb Smn1tm1Msd Tg(ACTA1-SMN)63Ahmb/J
006553   STOCK Tg(SMN2)89Ahmb Smn1tm1Msd Tg(H2-K1-tsA58)6Kio Tg(SMN2*delta7)4299Ahmb/J
006570   STOCK Tg(SMN2)89Ahmb Smn1tm1Msd Tg(Hlxb9-GFP)1Tmj/J
008212   STOCK Tg(SMN2)89Ahmb Smn1tm1Msd Tg(Prnp-SMN)92Ahmb/J
008359   STOCK Tg(SMN2)89Ahmb Smn1tm3(SMN2/Smn1)Mrph/J
View Strains carrying   Tg(SMN2)89Ahmb     (22 strains)

View Strains carrying   Tg(SMN2*delta7)4299Ahmb     (9 strains)

View Strains carrying other alleles of SMN2     (21 strains)

Strains carrying other alleles of Smn1
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
010921   B6.129P2(Cg)-Smn1tm1Msd/J
007963   B6.Cg-Smn1tm2Mrph/J
008629   B6.Cg-Tg(SMN2)11Tro Smn1tm1Msd/J
008631   B6.Cg-Tg(SMN2)11Tro Tg(SMN2)46Tro Smn1tm1Msd/J
008630   B6.Cg-Tg(SMN2)46Tro Smn1tm1Msd/J
007222   B6.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN1*A2G)2023Ahmb/J
006964   B6.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb/J
006773   B6.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd/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
006214   FVB.129P2-Smn1tm1Msd/J
005058   FVB.Cg-Smn1tm1Hung Tg(SMN2)2Hung/J
008206   FVB.Cg-Smn1tm1Msd Tg(SMN2)566Ahmb/J
007955   FVB.Cg-Smn1tm2Mrph/J
009381   FVB.Cg-Smn1tm6(SMN2)Mrph/J
008209   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(ACTA1-SMN)69Ahmb/J
016573   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(S100B-EGFP)1Wjt Tg(SMN2*delta7)4299Ahmb/J
007968   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN1*A2G)2023Ahmb/2J
008782   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*A111G)588Ahmb/J
009134   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*A111G)591Ahmb/J
007952   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb/2J
005025   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb/J
005026   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN1*A2G)2023Ahmb/J
007949   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd/2J
005024   FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd/J
013574   FVB/N-Tg(149m19)M141Kunst/J
017596   STOCK Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb Tg(tetO-SMN2,-luc)#aAhmb/J
017597   STOCK Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb Tg(tetO-SMN2,-luc)#bAhmb/J
007022   STOCK Mnx1tm4(cre)Tmj Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb/J
008203   STOCK Tg(SMN2)89Ahmb Smn1tm1Msd Tg(ACTA1-SMN)63Ahmb/J
006553   STOCK Tg(SMN2)89Ahmb Smn1tm1Msd Tg(H2-K1-tsA58)6Kio Tg(SMN2*delta7)4299Ahmb/J
006570   STOCK Tg(SMN2)89Ahmb Smn1tm1Msd Tg(Hlxb9-GFP)1Tmj/J
008212   STOCK Tg(SMN2)89Ahmb Smn1tm1Msd Tg(Prnp-SMN)92Ahmb/J
View Strains carrying other alleles of Smn1     (43 strains)

Additional Web Information

Reference Guide to Mouse Models of Spinal Muscular Atrophy manual [.pdf]
Visit the Spinal Muscular Atrophy (SMA) Mouse Model Resource site for helpful information on SMA Disease and research resources.

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Spinal Muscular Atrophy, Type I; SMA1   (SMN1)
Spinal Muscular Atrophy, Type II; SMA2   (SMN1)
Spinal Muscular Atrophy, Type III; SMA3   (SMN1)
Spinal Muscular Atrophy, Type IV; SMA4   (SMN1)
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

Neurobiology Research
Neurodegeneration
Spinal Muscular Atrophy (SMA)

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Smn1tm3(SMN2/Smn1)Mrph
Allele Name targeted mutation 3, Andrew Murphy
Allele Type Targeted (Floxed/Frt)
Common Name(s) Smn1 COIN (conditional inversion); SmnRes; hybrid rescue allele;
Mutation Made By Nicole Graiff,   Regeneron
Strain of Origin(129S6/SvEvTac x C57BL/6NTac)F1
ES Cell Line NameF1H4
ES Cell Line Strain(129S6/SvEvTac x C57BL/6NTac)F1
Site of ExpressionFollowing Cre-mediated irreversible inversion of the fragment bordered by the lox71 and lox66 sites, the allele is "rescued" into a format that contains mouse Smn1 exons 1 through 7 and human SMN2 exon 8 and the resulting SMN protein is produced in motor neurons.
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;
Molecular Note Exons 7 and 8 of the mouse Smn1 (survival motor neuron 1) gene and a several hundred base pairs of flanking sequence were replaced with a fragment containing, in order: 1) an inverted lox71 site; 2) exon 7 from the human SMN2 (survival of motor neuron 2,centromeric) gene flanked by several hundred base pairs of intron sequence; 3) an inverted copy of mouse Smn1 exon 7 flanked by several hundred base pairs of intron sequence; 4) a lox66 site; 5) an FRT site remnant from a deleted selection cassette; and 6) human SMN2 exon 8 including the 3'UTR and polyA signal with several hundred base pairs of flanking sequence. The engineered allele expresses a hybrid Smn1 gene containing mouse Smn1 exons 1 through 6 and human SMN2 exons 7 and 8. The human SMN2 exon 7 is skipped in the majority of mRNA derived from the hybrid gene due to a single base pair difference in human SMN2 exon 7, compared to human SMN1 exon 7. Following Cre-mediated irreversible inversion of the fragment bordered by the lox71 and lox66 sites, the allele is "rescued" into a format that contains mouse Smn1 exons 1 through 7 and human SMN2 exon 8. Because the mouse Smn1 exon 8 is efficiently spliced, the majority of the mRNA from the rescue allele after Cre-mediated inversion contains mouse Smn1 exon 7. [MGI Ref ID J:135423]
 
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 OriginFVB/N
Site of ExpressionDendrites, 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 OriginFVB/N
Site of ExpressionDendrites, 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]
 

Genotyping

Genotyping Information

Genotyping Protocols

Smn1tm3(SMN2/Smn1)Mrph, Separated PCR
SMN genomic, QPCR
Smn1tm3(SMN2/Smn1)Mrph Inverted, Standard PCR
Smn1tm3(SMN2/Smn1)Mrph,

Separated MCA


Smn1tm3(SMN2/Smn1)Mrph, Melt Curve Analysis
Tg(Myh6-cre), Melt Curve Analysis
Tg(Myh6-cre), Standard PCR
Tg(SMN2)89Ahmb, Melt Curve Analysis
Tg(SMN2)89Ahmb, Standard PCR
Tg(SMN2*delta7)4299Ahmb, QPCR
Tg(SMN2*delta7)4299Ahmb, Standard PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Smn1tm3(SMN2/Smn1)Mrph related

Lee AJ; Awano T; Park GH; Monani UR. 2012. Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy. PLoS One 7(9):e46353. [PubMed: 23029491]  [MGI Ref ID J:191961]

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]

Martinez TL; Kong L; Wang X; Osborne MA; Crowder ME; Van Meerbeke JP; Xu X; Davis C; Wooley J; Goldhamer DJ; Lutz CM; Rich MM; Sumner CJ. 2012. Survival Motor Neuron Protein in Motor Neurons Determines Synaptic Integrity in Spinal Muscular Atrophy. J Neurosci 32(25):8703-8715. [PubMed: 22723710]  [MGI Ref ID J:185657]

Murphy A (Regeneron Pharmaceuticals, Inc.). 2008. Smn1 hybrid rescue allele, COIN (conditional inversion) Personal Communication :.  [MGI Ref ID J:135423]

Osborne M; Gomez D; Feng Z; McEwen C; Beltran J; Cirillo K; El-Khodor B; Lin MY; Li Y; Knowlton WM; McKemy DD; Bogdanik L; Butts-Dehm K; Martens K; Davis C; Doty R; Wardwell K; Ghavami A; Kobayashi D; Ko CP; Ramboz S; Lutz C. 2012. Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models. Hum Mol Genet :. [PubMed: 22802075]  [MGI Ref ID J:186987]

Paez-Colasante X; Seaberg B; Martinez TL; Kong L; Sumner CJ; Rimer M. 2013. Improvement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons. PLoS One 8(9):e75866. [PubMed: 24086650]  [MGI Ref ID J:206015]

Tg(SMN2)89Ahmb related

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]

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]

Boyer JG; Murray LM; Scott K; De Repentigny Y; Renaud JM; Kothary R. 2013. Early onset muscle weakness and disruption of muscle proteins in mouse models of spinal muscular atrophy. Skelet Muscle 3(1):24. [PubMed: 24119341]  [MGI Ref ID J:202752]

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]

Dachs E; Piedrafita L; Hereu M; Esquerda JE; Caldero J. 2013. Chronic treatment with lithium does not improve neuromuscular phenotype in a mouse model of severe spinal muscular atrophy. Neuroscience 250:417-33. [PubMed: 23876328]  [MGI Ref ID J:207041]

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; Abadia-Molina F; Mackenzie D; Hadwen J; Shamim F; O'Reilly S; Holcik M; Mackenzie A. 2013. Celecoxib increases SMN and survival in a severe spinal muscular atrophy mouse model via p38 pathway activation. Hum Mol Genet 22(17):3415-24. [PubMed: 23656793]  [MGI Ref ID J:199128]

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 AJ; Awano T; Park GH; Monani UR. 2012. Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy. PLoS One 7(9):e46353. [PubMed: 23029491]  [MGI Ref ID J:191961]

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]

Paez-Colasante X; Seaberg B; Martinez TL; Kong L; Sumner CJ; Rimer M. 2013. Improvement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons. PLoS One 8(9):e75866. [PubMed: 24086650]  [MGI Ref ID J:206015]

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]

See K; Yadav P; Giegerich M; Cheong PS; Graf M; Vyas H; Lee SG; Mathavan S; Fischer U; Sendtner M; Winkler C. 2014. SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy. Hum Mol Genet 23(7):1754-70. [PubMed: 24218366]  [MGI Ref ID J:207140]

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]

Tisdale S; Lotti F; Saieva L; Van Meerbeke JP; Crawford TO; Sumner CJ; Mentis GZ; Pellizzoni L. 2013. SMN Is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3'-End Formation of Histone mRNAs. Cell Rep 5(5):1187-95. [PubMed: 24332368]  [MGI Ref ID J:204134]

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]

Zhang Z; Pinto AM; Wan L; Wang W; Berg MG; Oliva I; Singh LN; Dengler C; Wei Z; Dreyfuss G. 2013. Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy. Proc Natl Acad Sci U S A 110(48):19348-53. [PubMed: 24191055]  [MGI Ref ID J:202974]

Tg(SMN2*delta7)4299Ahmb related

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]

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]

Dachs E; Piedrafita L; Hereu M; Esquerda JE; Caldero J. 2013. Chronic treatment with lithium does not improve neuromuscular phenotype in a mouse model of severe spinal muscular atrophy. Neuroscience 250:417-33. [PubMed: 23876328]  [MGI Ref ID J:207041]

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; Abadia-Molina F; Mackenzie D; Hadwen J; Shamim F; O'Reilly S; Holcik M; Mackenzie A. 2013. Celecoxib increases SMN and survival in a severe spinal muscular atrophy mouse model via p38 pathway activation. Hum Mol Genet 22(17):3415-24. [PubMed: 23656793]  [MGI Ref ID J:199128]

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; 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]

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]

Paez-Colasante X; Seaberg B; Martinez TL; Kong L; Sumner CJ; Rimer M. 2013. Improvement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons. PLoS One 8(9):e75866. [PubMed: 24086650]  [MGI Ref ID J:206015]

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]

Tisdale S; Lotti F; Saieva L; Van Meerbeke JP; Crawford TO; Sumner CJ; Mentis GZ; Pellizzoni L. 2013. SMN Is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3'-End Formation of Histone mRNAs. Cell Rep 5(5):1187-95. [PubMed: 24332368]  [MGI Ref ID J:204134]

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]

Zhang Z; Pinto AM; Wan L; Wang W; Berg MG; Oliva I; Singh LN; Dengler C; Wei Z; Dreyfuss G. 2013. Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy. Proc Natl Acad Sci U S A 110(48):19348-53. [PubMed: 24191055]  [MGI Ref ID J:202974]

Health & husbandry

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Colony Maintenance

Breeding & HusbandryWhen maintaining a live colony, mice heterozygous for Smn1tm3(SMN2/Smn1)Mrph, homozygous for Tg(SMN2*delta7)4299Ahmb and homozygous for Tg(SMN2)89Ahmb may be bred together.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2450.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Embryos

Price (US dollars $)
Frozen Embryo $1600.00

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryopreserved Embryos
    Available to most shipping destinations1
    This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos, please visit our Cryopreserved Embryos web page.

    1 Shipments cannot be made to Australia due to Australian government import restrictions.
    2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.
  • Cryorecovery - Standard.
    Progeny testing is not required.
    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice
    Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3185.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Embryos

Price (US dollars $)
Frozen Embryo $2080.00

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryopreserved Embryos
    Available to most shipping destinations1
    This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos, please visit our Cryopreserved Embryos web page.

    1 Shipments cannot be made to Australia due to Australian government import restrictions.
    2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.
  • Cryorecovery - Standard.
    Progeny testing is not required.
    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice
    Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Control Information

  Control
   Wild-type male from the colony
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.


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
Surgical and Preconditioning Services
JAX® Services
Customer Services and Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form

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.

Contact information

General inquiries regarding Terms of Use

Contracts Administration

phone:207-288-6470

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

MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

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.

No Liability

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.


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