Strain Name:

FVB.Cg-Smn1tm1Hung Tg(SMN2)2Hung/J

Stock Number:

005058

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Availability:

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Common Names: SMA-like mice line 2;    
These mice exhibit a molecular and progressive neurodegenerative phenotype similar to Type III spinal muscular atrophy.

Description

Strain Information

Former Names FVB.Cg-Tg(SMN2)2Hung Smn1tm1Hung/J    (Changed: 09-MAY-13 )
Type Congenic; Mutant Strain; Targeted Mutation; Transgenic;
Additional information on Genetically Engineered and Mutant Mice.
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Additional information on Congenic nomenclature.
Mating SystemSee Colony Maintenance under the Health & Care tab         (Female x Male)   01-MAR-06
Specieslaboratory mouse
GenerationN10F14 (10-DEC-13)
Generation Definitions
 
Donating Investigator Hung Li,   Institute of Molecular Biology

Description
Mice that are homozygous for the Smn1 targeted mutation and homozygous for the SMN2 transgene are viable, fertile and exhibit short and thickened tails. RT-PCR analysis detects alternative splicing of the transgene. Histological examination of tail tissue reveals atrophic muscles and subcutaneous edema. Skeletal muscle tissue has fewer myocytes and atrophic muscle bundles. Large motor neurons in the anterior horns of the spinal cord degenerate and are lost. There is a strong correlation between estimated copy number of the transgene and severity of the neurodegenerative phenotype. Mice that are homozygous for the targeted mutation and do not carry the transgene have an embryonic lethal phenotype, failing to survive past embryonic day 6.5.

Importation of this model was supported by the Spinal Muscular Atrophy Foundation.

Development
Double mutant mice were generated by crossing transgenic mice carrying the human SMN2 gene with mice heterozygous for the Smntm1Hung targeted mutation. The targeted mutant allele was generated by disrupting exon 7 with a vector containing neomycin resistance and herpes simplex virus thymidine kinase genes. This construct was electroporated into 129P2/OlaHsd-derived E14TG2a embryonic stem cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts and chimeric animals obtained. Chimeric animals were crossed to C57BL/6 for more than 5 generations. The transgene consists of 115kb of sequence from the SMN BAC clone 7C, including the entire human SMN2 coding region and flanking sequence. The transgenic construct was microinjected into male pronuclei of FVB/N mice. Founder line 2 was crossed to mice heterozygous for the targeted mutation, Smntm1Hung. The double mutant was then backcrossed to FVB/N for 5 generations.

Control Information

  Control
   None Available Appropriate controls depend on the nature of the experiment. FVB/NJ mice (Stock No. 001800) may be included among the controls considered.
 
  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
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
018916   STOCK Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN1-SMN2*)16Cll/CllJ
007951   STOCK Tg(SMN2)89Ahmb Smn1tm3(SMN2/Smn1)Mrph Tg(SMN2*delta7)4299Ahmb/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     (58 strains)

Strains carrying other alleles of SMN2
008453   B6.129-Smn1tm4(SMN2)Mrph/J
008714   B6.129-Smn1tm5(Smn1/SMN2)Mrph/J
009378   B6.129-Smn1tm6(SMN2)Mrph/J
018439   B6.129S6-Tg(CAG-Bgeo,-SMN2)E9Dscd/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
008383   B6;129-Smn1tm4(SMN2)Mrph/J
008384   B6;129-Smn1tm5(Smn1/SMN2)Mrph/J
008704   B6;129-Smn1tm6(SMN2)Mrph/J
008713   FVB.129(B6)-Smn1tm4(SMN2)Mrph/J
008604   FVB.129(B6)-Smn1tm5(Smn1/SMN2)Mrph/J
008206   FVB.Cg-Smn1tm1Msd Tg(SMN2)566Ahmb/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
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
018916   STOCK Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN1-SMN2*)16Cll/CllJ
007951   STOCK Tg(SMN2)89Ahmb Smn1tm3(SMN2/Smn1)Mrph Tg(SMN2*delta7)4299Ahmb/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 Strains carrying other alleles of SMN2     (40 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
007966   B6.Cg-Smn1tm3(SMN2/Smn1)Mrph/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
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
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
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
018916   STOCK Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN1-SMN2*)16Cll/CllJ
007951   STOCK Tg(SMN2)89Ahmb Smn1tm3(SMN2/Smn1)Mrph Tg(SMN2*delta7)4299Ahmb/J
008359   STOCK Tg(SMN2)89Ahmb Smn1tm3(SMN2/Smn1)Mrph/J
View Strains carrying other alleles of Smn1     (48 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
- Characteristics of this human disease are associated with transgenes and other mutation types in the mouse.
Spinal Muscular Atrophy, Type I; SMA1
- 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)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung/0

        FVB.Cg-Smn1tm1Hung Tg(SMN2)2Hung/J
  • mortality/aging
  • premature death
    • mice on an FVB/N background exhibit decreased survival compared with mice on a C57BL/6N or mixed background   (MGI Ref ID J:193844)
  • nervous system phenotype
  • abnormal neuromuscular synapse morphology
    • mice on an FVB/N background exhibit smaller endplate size compared with mice on a mixed background   (MGI Ref ID J:193844)
  • muscle phenotype
  • decreased skeletal muscle fiber size
    • mice on an FVB/N background exhibit smaller muscle fiber size compared with mice on a mixed background   (MGI Ref ID J:193844)

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung/0

        B6N.Cg-Smn1tm1Hung Tg(SMN2)2Hung
  • mortality/aging
  • premature death
    • mice exhibit reduced survival compared with Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice   (MGI Ref ID J:193844)
    • mice on a C57BL/6N background exhibit increased survival compared with mice on an FVB/N background but not as much as on a mixed background   (MGI Ref ID J:193844)
  • nervous system phenotype
  • abnormal motor neuron morphology
    • decreased motor neuron size with decreased proprioceptive nerves compared with Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice   (MGI Ref ID J:193844)
  • abnormal neuromuscular synapse morphology
    • mice exhibit reduced axon input and endplate side compared with Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice   (MGI Ref ID J:193844)
  • abnormal proprioceptive neuron morphology
    • decreased proprioceptive nerves in contact with motor neurons compared with Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice   (MGI Ref ID J:193844)
  • behavior/neurological phenotype
  • abnormal motor capabilities/coordination/movement
    • mice exhibit impaired motor abilities in tube and righting tests compared with Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice   (MGI Ref ID J:193844)
    • impaired righting response
      • compared with Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice   (MGI Ref ID J:193844)
  • muscle phenotype
  • decreased skeletal muscle fiber size
    • compared with Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice   (MGI Ref ID J:193844)
  • growth/size/body phenotype
  • decreased body size
    • mice on a C57BL/6N background are smaller than mice on an FVB/N or mixed background   (MGI Ref ID J:193844)
    • decreased body weight
      • compared with Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice   (MGI Ref ID J:193844)

Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung/0

        involves: 129P2/OlaHsd * C57BL/6N * FVB/N
  • mortality/aging
  • premature death
    • mice on a mixed background exhibit increased survival compared with mice on a C57BL/6N or FVB/N background   (MGI Ref ID J:193844)
  • nervous system phenotype
  • abnormal endplate potential
    • mice exhibit an increase rise and decay time compared to in Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice   (MGI Ref ID J:193844)
  • abnormal neuromuscular synapse morphology
    • mice on a mixed background exhibit increased endplate size compared with mice on an FVB/N background   (MGI Ref ID J:193844)
  • abnormal synaptic vesicle clustering
  • abnormal synaptic vesicle morphology
    • at P4 and P14, the area of nerve terminals occupied by synaptic vesicle area is decreased compared to in Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice   (MGI Ref ID J:193844)
    • at P14, the number of active zones is reduced compared to in Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice   (MGI Ref ID J:193844)
  • digestive/alimentary phenotype
  • abnormal colon morphology
    • mice exhibit multi-organ failure with lesions in the small intestine, colon, lung and heart at P12   (MGI Ref ID J:193844)
    • the small intestine and colon exhibits fewer villi that are blunted and club-shaped with severe intramural edema in the lamina propria   (MGI Ref ID J:193844)
  • abnormal intestinal mucosa morphology
    • small intestine mucosal epithelial cells exhibit intracytoplasmatic vacuoles at the tips of the villi and lacteals are occasionally dilated   (MGI Ref ID J:193844)
  • abnormal small intestine morphology
    • mice exhibit multi-organ failure with lesions in the small intestine, colon, lung and heart at P12   (MGI Ref ID J:193844)
    • abnormal small intestinal villus morphology
      • the small intestine and colon exhibits fewer villi that are blunted and club-shaped with severe intramural edema in the lamina propria   (MGI Ref ID J:193844)
      • decreased small intestinal villus size
        • the small intestine and colon exhibits fewer villi that are blunted and club-shaped with severe intramural edema in the lamina propria   (MGI Ref ID J:193844)
  • respiratory system phenotype
  • abnormal lung morphology
    • mice exhibit multi-organ failure with lesions in the small intestine, colon, lung and heart at P12   (MGI Ref ID J:193844)
    • abnormal pulmonary alveolus morphology
      • lungs exhibit variable degrees of emphysema with ruptured alveolar septa and enlarged alveolar spaces   (MGI Ref ID J:193844)
    • abnormal pulmonary interalveolar septum morphology
      • lungs exhibit variable degrees of emphysema with ruptured alveolar septa and enlarged alveolar spaces   (MGI Ref ID J:193844)
    • emphysema
      • lungs exhibit variable degrees of emphysema with ruptured alveolar septa and enlarged alveolar spaces   (MGI Ref ID J:193844)
  • cardiovascular system phenotype
  • abnormal heart morphology
    • mice exhibit multi-organ failure with lesions in the small intestine, colon, lung and heart at P12   (MGI Ref ID J:193844)
    • small heart   (MGI Ref ID J:193844)
    • thin interventricular septum   (MGI Ref ID J:193844)
  • muscle phenotype
  • increased skeletal muscle fiber size
    • mice on a mixed background exhibit larger muscle fiber size than in mice on an FVB/N background   (MGI Ref ID J:193844)

Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung/Tg(SMN2)2Hung

        involves: 129P2/OlaHsd * FVB/N
  • mortality/aging
  • partial postnatal lethality
    • mice with the most severe phenotype (type 1) die before P10   (MGI Ref ID J:59313)
    • mice with an intermediate phenotype (type 2) die at approximately 2-4 weeks   (MGI Ref ID J:59313)
    • mice with a mild phenotype (type 3) live a normal lifespan   (MGI Ref ID J:59313)
  • premature death
    • mice with an intermediate phenotype (type 2) die at approximately 2-4 weeks   (MGI Ref ID J:59313)
  • nervous system phenotype
  • abnormal astrocyte morphology
    • presence of glial bundles observed in anterior spinal root of type 1 mice   (MGI Ref ID J:59313)
  • abnormal motor neuron morphology
    • selective loss of thick myelinated fibers observed in anterior spinal root of type 1 mice   (MGI Ref ID J:59313)
    • decreased motor neuron number
      • loss of large motor neurons in anterior horns of spinal cord with appearance of empty cell beds   (MGI Ref ID J:59313)
      • phenotype is not observed in type 3 mice   (MGI Ref ID J:59313)
  • axon degeneration
    • exhibited in anterior spinal roots   (MGI Ref ID J:59313)
    • phenotype is not observed in type 3 mice   (MGI Ref ID J:59313)
  • chromatolysis
    • exhibited in motor neurons of anterior horn of type 1 mice   (MGI Ref ID J:59313)
  • muscle phenotype
  • abnormal skeletal muscle fiber morphology   (MGI Ref ID J:59313)
    • decreased skeletal muscle fiber diameter
      • decreased diameter of muscle fibers in tail   (MGI Ref ID J:59313)
    • decreased skeletal muscle fiber number
      • fewer muscle fibers in trunk and limb muscles   (MGI Ref ID J:59313)
    • increased skeletal muscle fiber size
      • atrophic fibers associated with hypertrophic type 1 fibers in type 1 mice   (MGI Ref ID J:59313)
  • muscular atrophy
    • atrophy of muscle bundles in tail, trunk and limb muscles   (MGI Ref ID J:59313)
  • limbs/digits/tail phenotype
  • abnormal tail morphology
    • decreased diameter of muscle fibers, atrophy of muscle bundles, group atrophy and subcutaneous edema   (MGI Ref ID J:59313)
    • edema is more severe in type 3 than in type 2 mice and rare in type 1 mice   (MGI Ref ID J:59313)
    • short tail
      • exhibited by mice with the type 3 phenotype   (MGI Ref ID J:59313)
    • tail necrosis
      • 50% of type 1 and 2 mice develop chronic necrosis from the tip of the tail to the root   (MGI Ref ID J:59313)
    • thick tail
      • exhibited by mice with the type 3 phenotype   (MGI Ref ID J:59313)
  • homeostasis/metabolism phenotype
  • extremity edema
    • subcutaneous edema of tail, most severe in type 3 mice and rare in type 1   (MGI Ref ID J:59313)
    • subcutaneous edema of hindlimbs   (MGI Ref ID J:59313)
  • behavior/neurological phenotype
  • hindlimb paralysis
    • exhibited in some type 2 mice   (MGI Ref ID J:59313)
  • growth/size/body phenotype
  • decreased body weight
    • exhibited by all three phenotypes, decrease is proportionate to severity of symptoms   (MGI Ref ID J:59313)
  • integument phenotype
  • hairless
    • type 1 mice do not develop fur   (MGI Ref ID J:59313)
View Research Applications

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

Neurobiology Research
Ataxia (Movement) Defects
Neurodegeneration
Spinal Muscular Atrophy (SMA)

Smn1tm1Hung related

Neurobiology Research
Spinal Muscular Atrophy (SMA)

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Smn1tm1Hung
Allele Name targeted mutation 1, Hung Li
Allele Type Targeted (Null/Knockout)
Common Name(s) Smn-; Smndelta 7;
Mutation Made By Hung Li,   Institute of Molecular Biology
Strain of Origin129P2/OlaHsd
ES Cell Line NameE14TG2a
ES Cell Line Strain129P2/OlaHsd
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;
General Note Homozygous mutant mice died during the peri-implantation stage.

In contrast, homozygous mutant mice carrying Tg(SMN2)1Hung display pathological changes in the spinal cord and skeletal muscles similar to those of patients with proximal spinal muscular atrophy (SMA). Some of these mice do not develop hairy fur, and die before postnatal day 10. Others exhibit poor activity and variable symptoms, and die at approximately 2-4 weeks. A third group of these mice survive to adulthood and are fertile, but have short enlarged tails. The variable severity of the pathological changes in these mice correlates with transgene copy number and the amount of protein that contains the region encodedby exon 7.

Molecular Note Exon 7 was replaced with an HPRT cassette via homologous recombination. Homozygous embryos were detected at E3.5 but not after E6.5. [MGI Ref ID J:59313]
 
Allele Symbol Tg(SMN2)2Hung
Allele Name transgene insertion 2, Hung Li
Allele Type Transgenic (Inserted expressed sequence)
Common Name(s) SMN2+;
Mutation Made By Hung Li,   Institute of Molecular Biology
Strain of OriginFVB/N
Expressed Gene SMN2, survival of motor neuron 2, centromeric, human
Promoter SMN2, survival of motor neuron 2, centromeric, human
General Note Five lines were generated.

Hemizygous transgenic mice that are also homozygous for Smn1tm1Hung display:

  • a range of spinal muscular atrophy (SMA)-like pathologies characterized as type 1, type 2, and type 3
    • Type 1 animals do not develop hairy fur, and die before postnatal day 10
    • Type 2 animals exhibit poor activity and variable symptoms, and die at approximately 2-4 weeks
    • Type 3 animals survive to adulthood and are fertile, but have short enlarged tails
  • Transgene copy number correlates with the amount of protein that contains the region encoded by exon 7 and the severity of SMA-like phenotypes in these animals
Molecular Note The transgene consists of 115kb of sequence from the SMN BAC clone 7C, including the entire human SMN2 coding region and flanking sequence. Five lines were generated. [MGI Ref ID J:59313]
 

Genotyping

Genotyping Information

Genotyping Protocols

Smn1tm1Msd,

SEPARATED MELT


Smn1tm1Msd, High Resolution Melting
Smn1tm1Hung, Standard PCR
Tg(SMN2)2Hung, QPCR
Tg(SMN2)2Hung, Standard PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Hsieh-Li HM; Chang JG; Jong YJ; Wu MH; Wang NM; Tsai CH; Li H. 2000. A mouse model for spinal muscular atrophy. Nat Genet 24(1):66-70. [PubMed: 10615130]  [MGI Ref ID J:59313]

Additional References

Chang JG; Hsieh-Li HM; Jong YJ; Wang NM; Tsai CH; Li H. 2001. Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci U S A 98(17):9808-13. [PubMed: 11504946]  [MGI Ref ID J:94612]

Smn1tm1Hung related

Ackermann B; Krober S; Torres-Benito L; Borgmann A; Peters M; Hosseini Barkooie SM; Tejero R; Jakubik M; Schreml J; Milbradt J; Wunderlich TF; Riessland M; Tabares L; Wirth B. 2013. Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality. Hum Mol Genet 22(7):1328-47. [PubMed: 23263861]  [MGI Ref ID J:193844]

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]

Biondi O; Lopes P; Desseille C; Branchu J; Chali F; Salah AB; Pariset C; Chanoine C; Charbonnier F. 2012. Physical exercise reduces cardiac defects in type 2 spinal muscular atrophy-like mice. J Physiol 590(Pt 22):5907-25. [PubMed: 22930275]  [MGI Ref ID J:203026]

Chang JG; Hsieh-Li HM; Jong YJ; Wang NM; Tsai CH; Li H. 2001. Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci U S A 98(17):9808-13. [PubMed: 11504946]  [MGI Ref ID J:94612]

Chen HH; Chang JG; Lu RM; Peng TY; Tarn WY. 2008. The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene. Mol Cell Biol 28(22):6929-38. [PubMed: 18794368]  [MGI Ref ID J:142591]

Custer SK; Androphy EJ. 2014. Autophagy dysregulation in cell culture and animals models of spinal muscular atrophy. Mol Cell Neurosci 61:133-40. [PubMed: 24983518]  [MGI Ref ID J:213992]

Gogliotti RG; Hammond SM; Lutz C; Didonato CJ. 2010. Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy. Biochem Biophys Res Commun 391(1):517-22. [PubMed: 19961830]  [MGI Ref ID J:156775]

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]

Grondard C; Biondi O; Armand AS; Lecolle S; Della Gaspera B; Pariset C; Li H; Gallien CL; Vidal PP; Chanoine C; Charbonnier F. 2005. Regular exercise prolongs survival in a type 2 spinal muscular atrophy model mouse. J Neurosci 25(33):7615-22. [PubMed: 16107648]  [MGI Ref ID J:101180]

Hensel N; Ratzka A; Brinkmann H; Klimaschewski L; Grothe C; Claus P. 2012. Analysis of the fibroblast growth factor system reveals alterations in a mouse model of spinal muscular atrophy. PLoS One 7(2):e31202. [PubMed: 22348054]  [MGI Ref ID J:185230]

Hua Y; Sahashi K; Rigo F; Hung G; Horev G; Bennett CF; Krainer AR. 2011. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature 478(7367):123-6. [PubMed: 21979052]  [MGI Ref ID J:177432]

Hunter G; Aghamaleky Sarvestany A; Roche SL; Symes RC; Gillingwater TH. 2014. SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy. Hum Mol Genet 23(9):2235-50. [PubMed: 24301677]  [MGI Ref ID J:208449]

Mende Y; Jakubik M; Riessland M; Schoenen F; Rossbach K; Kleinridders A; Kohler C; Buch T; Wirth B. 2010. Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing. Hum Mol Genet 19(11):2154-67. [PubMed: 20190275]  [MGI Ref ID J:159448]

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]

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]

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]

Sahashi K; Hua Y; Ling KK; Hung G; Rigo F; Horev G; Katsuno M; Sobue G; Ko CP; Bennett CF; Krainer AR. 2012. TSUNAMI: an antisense method to phenocopy splicing-associated diseases in animals. Genes Dev 26(16):1874-84. [PubMed: 22895255]  [MGI Ref ID J:186613]

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]

Shanmugarajan S; Tsuruga E; Swoboda KJ; Maria BL; Ries WL; Reddy SV. 2009. Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy. J Pathol 219(1):52-60. [PubMed: 19434631]  [MGI Ref ID J:151906]

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]

Somers E; Riessland M; Schreml J; Wirth B; Gillingwater TH; Parson SH. 2013. Increasing SMN levels using the histone deacetylase inhibitor SAHA ameliorates defects in skeletal muscle microvasculature in a mouse model of severe spinal muscular atrophy. Neurosci Lett 544:100-4. [PubMed: 23583590]  [MGI Ref ID J:200043]

Tsai LK; Tsai MS; Lin TB; Hwu WL; Li H. 2006. Establishing a standardized therapeutic testing protocol for spinal muscular atrophy. Neurobiol Dis 24(2):286-95. [PubMed: 16952456]  [MGI Ref ID J:114536]

Tsai MS; Chiu YT; Wang SH; Hsieh-Li HM; Li H. 2006. Abolishing Trp53-dependent apoptosis does not benefit spinal muscular atrophy model mice. Eur J Hum Genet 14(3):372-5. [PubMed: 16391561]  [MGI Ref ID J:129232]

Wen HL; Lin YT; Ting CH; Lin-Chao S; Li H; Hsieh-Li HM. 2010. Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy. Hum Mol Genet 19(9):1766-78. [PubMed: 20176735]  [MGI Ref ID J:158711]

Wen HL; Ting CH; Liu HC; Li H; Lin-Chao S. 2013. Decreased stathmin expression ameliorates neuromuscular defects but fails to prolong survival in a mouse model of spinal muscular atrophy. Neurobiol Dis 52:94-103. [PubMed: 23268200]  [MGI Ref ID J:197649]

Wishart TM; Mutsaers CA; Riessland M; Reimer MM; Hunter G; Hannam ML; Eaton SL; Fuller HR; Roche SL; Somers E; Morse R; Young PJ; Lamont DJ; Hammerschmidt M; Joshi A; Hohenstein P; Morris GE; Parson SH; Skehel PA; Becker T; Robinson IM; Becker CG; Wirth B; Gillingwater TH. 2014. Dysregulation of ubiquitin homeostasis and beta-catenin signaling promote spinal muscular atrophy. J Clin Invest 124(4):1821-34. [PubMed: 24590288]  [MGI Ref ID J:209625]

Tg(SMN2)2Hung related

Ackermann B; Krober S; Torres-Benito L; Borgmann A; Peters M; Hosseini Barkooie SM; Tejero R; Jakubik M; Schreml J; Milbradt J; Wunderlich TF; Riessland M; Tabares L; Wirth B. 2013. Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality. Hum Mol Genet 22(7):1328-47. [PubMed: 23263861]  [MGI Ref ID J:193844]

Biondi O; Branchu J; Sanchez G; Lancelin C; Deforges S; Lopes P; Pariset C; Lecolle S; Cote J; Chanoine C; Charbonnier F. 2010. In vivo NMDA receptor activation accelerates motor unit maturation, protects spinal motor neurons, and enhances SMN2 gene expression in severe spinal muscular atrophy mice. J Neurosci 30(34):11288-99. [PubMed: 20739549]  [MGI Ref ID J:163527]

Biondi O; Lopes P; Desseille C; Branchu J; Chali F; Salah AB; Pariset C; Chanoine C; Charbonnier F. 2012. Physical exercise reduces cardiac defects in type 2 spinal muscular atrophy-like mice. J Physiol 590(Pt 22):5907-25. [PubMed: 22930275]  [MGI Ref ID J:203026]

Chang JG; Hsieh-Li HM; Jong YJ; Wang NM; Tsai CH; Li H. 2001. Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci U S A 98(17):9808-13. [PubMed: 11504946]  [MGI Ref ID J:94612]

Chen HH; Chang JG; Lu RM; Peng TY; Tarn WY. 2008. The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene. Mol Cell Biol 28(22):6929-38. [PubMed: 18794368]  [MGI Ref ID J:142591]

Custer SK; Androphy EJ. 2014. Autophagy dysregulation in cell culture and animals models of spinal muscular atrophy. Mol Cell Neurosci 61:133-40. [PubMed: 24983518]  [MGI Ref ID J:213992]

Gogliotti RG; Hammond SM; Lutz C; Didonato CJ. 2010. Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy. Biochem Biophys Res Commun 391(1):517-22. [PubMed: 19961830]  [MGI Ref ID J:156775]

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]

Hensel N; Ratzka A; Brinkmann H; Klimaschewski L; Grothe C; Claus P. 2012. Analysis of the fibroblast growth factor system reveals alterations in a mouse model of spinal muscular atrophy. PLoS One 7(2):e31202. [PubMed: 22348054]  [MGI Ref ID J:185230]

Hua Y; Sahashi K; Rigo F; Hung G; Horev G; Bennett CF; Krainer AR. 2011. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature 478(7367):123-6. [PubMed: 21979052]  [MGI Ref ID J:177432]

Hunter G; Aghamaleky Sarvestany A; Roche SL; Symes RC; Gillingwater TH. 2014. SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy. Hum Mol Genet 23(9):2235-50. [PubMed: 24301677]  [MGI Ref ID J:208449]

Mende Y; Jakubik M; Riessland M; Schoenen F; Rossbach K; Kleinridders A; Kohler C; Buch T; Wirth B. 2010. Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing. Hum Mol Genet 19(11):2154-67. [PubMed: 20190275]  [MGI Ref ID J:159448]

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]

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]

Sahashi K; Hua Y; Ling KK; Hung G; Rigo F; Horev G; Katsuno M; Sobue G; Ko CP; Bennett CF; Krainer AR. 2012. TSUNAMI: an antisense method to phenocopy splicing-associated diseases in animals. Genes Dev 26(16):1874-84. [PubMed: 22895255]  [MGI Ref ID J:186613]

Shanmugarajan S; Tsuruga E; Swoboda KJ; Maria BL; Ries WL; Reddy SV. 2009. Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy. J Pathol 219(1):52-60. [PubMed: 19434631]  [MGI Ref ID J:151906]

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]

Somers E; Riessland M; Schreml J; Wirth B; Gillingwater TH; Parson SH. 2013. Increasing SMN levels using the histone deacetylase inhibitor SAHA ameliorates defects in skeletal muscle microvasculature in a mouse model of severe spinal muscular atrophy. Neurosci Lett 544:100-4. [PubMed: 23583590]  [MGI Ref ID J:200043]

Tsai LK; Tsai MS; Lin TB; Hwu WL; Li H. 2006. Establishing a standardized therapeutic testing protocol for spinal muscular atrophy. Neurobiol Dis 24(2):286-95. [PubMed: 16952456]  [MGI Ref ID J:114536]

Tsai MS; Chiu YT; Wang SH; Hsieh-Li HM; Li H. 2006. Abolishing Trp53-dependent apoptosis does not benefit spinal muscular atrophy model mice. Eur J Hum Genet 14(3):372-5. [PubMed: 16391561]  [MGI Ref ID J:129232]

Wen HL; Lin YT; Ting CH; Lin-Chao S; Li H; Hsieh-Li HM. 2010. Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy. Hum Mol Genet 19(9):1766-78. [PubMed: 20176735]  [MGI Ref ID J:158711]

Wen HL; Ting CH; Liu HC; Li H; Lin-Chao S. 2013. Decreased stathmin expression ameliorates neuromuscular defects but fails to prolong survival in a mouse model of spinal muscular atrophy. Neurobiol Dis 52:94-103. [PubMed: 23268200]  [MGI Ref ID J:197649]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           AX11

Colony Maintenance

Breeding & HusbandryThe Smn1 (survival motor neuron 1) gene on Chr 13 and the randomly inserted transgene are not linked and will segregate independently. Breeding pairs offered by The Jackson Laboratory will be made up of :

(a) One mouse homozygous for the transgene and homozygous for the targeted Smn1 mutation.
(b) One mouse with no transgene and heterozygous for the targeted Smn1 mutation.

The mouse homozygous for the transgene and homozygous for the targeted Smn1 mutation displays a varied III SMA phenotype, while the mouse with no transgene and heterozygous for the targeted Smn1 mutation is phenotypically normal. Offspring resulting from the mating of breeder pairs can posses the following genotypes:

(1) Hemizygous for the transgene and heterozygous for the targeted mutation (50%)
(2) Hemizygous for the transgene and homozygous for the targeted mutation (50%)

Mice that are hemizygous the transgene and heterozygous for the targeted mutation are phenotypically normal. Mice hemizygous for the transgene and homozygous for the targeted mutation display a SMA-like phenotype.

Mating SystemSee Colony Maintenance under the Health & Care tab         (Female x Male)   01-MAR-06
Diet Information LabDiet® 5K52/5K67

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


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

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $232.00Female or MaleHomozygous for Smn1tm1Hung, Homozygous for Tg(SMN2)2Hung  
$232.00Female or MaleNoncarrier, Heterozygous for Smn1tm1Hung  
Price per Pair (US dollars $)Pair Genotype
$464.00Homozygous for Tg(SMN2)2Hung, Homozygous for Smn1tm1Hung x Noncarrier, Heterozygous for Smn1tm1Hung  
$464.00Noncarrier, Heterozygous for Smn1tm1Hung x Homozygous for Tg(SMN2)2Hung, Homozygous for Smn1tm1Hung  

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

Cryopreserved

Frozen Products

Price (US dollars $)
Frozen Embryo $1650.00

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

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

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $301.60Female or MaleHomozygous for Smn1tm1Hung, Homozygous for Tg(SMN2)2Hung  
$301.60Female or MaleNoncarrier, Heterozygous for Smn1tm1Hung  
Price per Pair (US dollars $)Pair Genotype
$603.20Homozygous for Tg(SMN2)2Hung, Homozygous for Smn1tm1Hung x Noncarrier, Heterozygous for Smn1tm1Hung  
$603.20Noncarrier, Heterozygous for Smn1tm1Hung x Homozygous for Tg(SMN2)2Hung, Homozygous for Smn1tm1Hung  

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

Cryopreserved

Frozen Products

Price (US dollars $)
Frozen Embryo $2145.00

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

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.
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Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

Control Information

  Control
   None Available Appropriate controls depend on the nature of the experiment. FVB/NJ mice (Stock No. 001800) may be included among the controls considered.
 
  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
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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 non-profits requires a Material Transfer Agreement (MTA) and for-profit entities require a license.

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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