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Strain Name:

FVB.129(B6)-Smn1tm1Jme/J

Stock Number:

006138

Availability:

Repository- Live

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Former Name      FVB.Cg-Smn1tm1Jme/J    (Changed: 15-MAR-07 )
Genes & Alleles   Smn1;   Smn1tm1Jme;

Product Information

Strain Details

Type JAX® GEMM® Strain - Congenic
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Mutant Strain
Type JAX® GEMM® Strain - Targeted Mutation
Mating SystemHomozygote x Homozygote         (Female x Male)
Specieslaboratory mouse
Donating Investigator IMR Colony,   The Jackson Laboratory
Generation?+N5F3 (01-MAY-08)

Strain Description
Mice homozygous for this SMNF7 floxed allele are viable and fertile and do not display any gross physical or behavioral abnormalities. Mutant mice exhibit no transcript splicing defects. Cre-mediated recombination of the loxP-flanked sequences results in deletion of exon 7 of the targeted gene. As mutations of this exon are implicated in 95% of all human spinal muscular atrophy (SMA), these mice may be useful in studying SMA or other neuromuscular degenerative diseases.

When crossed to a strain expressing Cre recombinase in neurons (ssee Stock No. 005938, Stock No. 006297, and Stock No. 006663), this mutant mouse strain may be useful as a model of SMA.

When crossed to a strain expressing Cre recombinase in striated muscle fibers (see Stock No. 005936, Stock No. 006139, and Stock No. 006149), this mutant mouse strain may be useful as a model of SMA.

SMNF7 mice are available on different genetic backgrounds (see Stock No. 006138 and Stock No. 006146). In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the SMNF7 phenotype could vary from that originally described on a mixed genetic background. We will modify the strain description if necessary as published results become available.

Importation of this model was supported by the Spinal Muscular Atrophy Foundation. Creation and development was supported by the National Institute of Health and Medical Research of France (Inserm) and the Association Française contre les Myopathies (AFM). An additional help was provided by Families of SMA (U.S.A.) and Andrew’s Buddies (U.S.A.).

Strain Development
A targeting vector was used to insert a neomycin resistance gene within intron 6 and place loxP sites immediately flanking exon 7 of the endogenous gene. This construct was electroporated into “129Sv” embryonic stem (ES) cells. Correctly targeted cells were injected into blastocysts. The resulting chimeric males were bred to C57BL/6J females. Heterozygous offspring were bred to generate homozygous mice. Homozygotes on this mixed B6;129 background were bred together for approximately 5 years before arrival at The Jackson Laboratory. After arriving, mutant mice were backcrossed to FVB/NJ (Stock No. 001800) for 5-10 generations.

Related Disease (OMIM) Terms

Spinal Muscular Atrophy, Type I; SMA1
Mammalian Phenotype Terms assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

Smn1tm1Jme/Smn1tm1Jme

        involves: 129 * C57BL/6J
  • normal phenotype
  • no abnormal phenotype detected (MGI Ref ID J:61396)
    • used for creation of Smn1tm1.1Jme

The following phenotype relates to a compound genotype created using this strain.
Contact JAX® Services jaxservices@jax.org for customized breeding options.

Smn1tm1Jme/Smn1tm1.1Jme Tg(ACTA1-cre)79Jme/0

        involves: 129 * C57BL/6 * SJL   (conditional)
  • life span-post-weaning/aging
  • premature death (MGI Ref ID J:67884)
    • extremely reduced life expectancy, dying at a mean age of 33 days
  • behavior/neurological phenotype
  • abnormal limb posture (MGI Ref ID J:67884)
    • in 4 weeks old mutant mice
  • abnormal locomotor activity (MGI Ref ID J:67884)
    • reduced spontaneous and induced motor activity after 3 weeks of age
  • paralysis (MGI Ref ID J:67884)
    • severe muscle paralysis after 3 weeks of age
  • skeleton phenotype
  • kyphosis (MGI Ref ID J:67884)
    • severe kyphosis after 3 weeks of age
  • muscle phenotype
  • abnormal muscle physiology (MGI Ref ID J:67884)
    • based on immunological examination, mutant mice display destabilization of the sarcolemma indicated by increased serum creatinine kinase activity, abnormal uptake of a membrane impermeant molecule, and patchy or lacking dystrophin
  • abnormal skeletal muscle fiber morphology (MGI Ref ID J:67884)
    • excessive variation in fiber size, infiltration of connective tissue with mononuclear cells, and regenerating myocytes with large central nuclei in 4-weeks-old mutant mice
    • the morphology of skeletal muscle from mutant mice was similar to that of control at 3 weeks of except the presence of some rare necrotic muscle fibers surrounded by mononuclear cell infiltration
    • the morphology of motor neurons was similar to that of control and no significant loss of motor neurons of the anterior horns was detected in mutant mice at 4 weeks of age
  • skeletal muscle necrosis (MGI Ref ID J:67884)
    • in 4-weeks-old mutant mice

Smn1tm1Jme/Smn1tm1.1Jme Tg(Eno2-cre)39Jme/0

        involves: 129 * C57BL/6 * SJL   (conditional)
  • life span-post-weaning/aging
  • premature death (MGI Ref ID J:61396)
    • extremely reduced life expectancy, dying at a mean age of 25 days
  • behavior/neurological phenotype
  • abnormal motor capabilities/coordination/movement (MGI Ref ID J:61396)
    • severe motor defect evident at 2 weeks of age
    • abnormal limb posture (MGI Ref ID J:61396)
      • abnormal posture of the hindlimbs
    • impaired righting response (MGI Ref ID J:61396)
    • tremors (MGI Ref ID J:61396)
      • evident at 2 weeks of age
  • muscle phenotype
  • abnormal skeletal muscle fiber morphology (MGI Ref ID J:61396)
    • presence of groups of atrophic muscle fibers and angular fibers intermixed with normal-size fibers
  • hypotonia (MGI Ref ID J:61396)
    • severe hypotonia characterized by a defect of flexor muscles of the limbs and neck when suspended on a horizontal thread
  • nervous system phenotype
  • abnormal motor neuron morphology (MGI Ref ID J:61396)
    • pronounced morphological changes of nuclei of motor neurons
    • the presence of indentations of the nuclear membrane
    • no significant loss of motor neurons of the anterior horns was detected in 2-weeks old mutant mice
    • abnormal motor neuron innervation (MGI Ref ID J:61396)
      • presence of a marked extrajunctional labeling of acetylcholine receptors indicating a denervation of skeletal muscle of neurogenic orgin

Gene & Allele Details

Allele Symbol Smn1tm1Jme
Allele Name targeted mutation 1, Judith Melki
Common Name(s) SMNF7;
Mutation Made By Judith Melki,   Genopole, Inserm U798
Strain of Origin129
ES Cell Line Strain129
Gene Symbol and Name Smn1, survival motor neuron 1
Chromosome 13
Gene Common Name(s) AI849087; BCD541; SMA; SMA1; SMA2; SMA3; SMA4; SMA@; SMN; SMNT; Smn; T-BCD541; expressed sequence AI849087; survival motor neuron;
Molecular Note A floxed exon 7 and neomycin resistance cassette were introduced to the gene via homologous recombination. The floxed exon 7 and neo cassette do not appear to interfere with transcript splicing in mutant animals as determined by RT-PCR analysis. [MGI Ref ID J:61396]

Control Information

  Control
   001800 FVB/NJ
 
  Considerations for Choosing Controls

Genotyping Protocols

Smn1tm1Jme

Colony Maintenance

Breeding & HusbandryWhen maintaining a live colony, homozygous mice may be bred.
Diet Information LabDiet® 5K52/5K67

Related Strains

Strains carrying   Smn1tm1Jme allele
006146   B6.129-Smn1tm1Jme/J
View Strains carrying   Smn1tm1Jme     (1 strain)

View Strains carrying other alleles of Smn1     (15 strains)

Additional Web Information

Congenic Nomenclature
Cre-lox or FLP-FRT Systems

Animal Health Reports

Room Number           AX11

Research Applications

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

Neurobiology Research
Cre-lox System (loxP-flanked Sequences)
Neurodegeneration
Neuromuscular Defects
Spinal Muscular Atrophy (SMA)

Research Tools
Cre-lox System (loxP-flanked Sequences)
Neurobiology Research

References

Selected Reference(s)

Frugier T; Tiziano FD; Cifuentes-Diaz C; Miniou P; Roblot N; Dierich A; Le Meur M; Melki J. 2000. Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy. Hum Mol Genet 9(5):849-58. [PubMed: 10749994]  [MGI Ref ID J:61396]

Additional References

Price and Supply Information

Strain Name: FVB.129(B6)-Smn1tm1Jme/J
Stock Number: 006138

Price Details

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Supply Details

Standard SupplyRepository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement.
Supply Notes Usually shipped between four and eight weeks of age.
This strain is included in the Induced Mutant Resource Colony collection.
LicensingSee General Terms and Conditions below for Licensing and Use Restrictions  
Control InformationView Control Information in Strain Details.

General Terms and Conditions

View JAX® Mice & Services Conditions of Use.

Effective September 26, 2007: License Requirements for Strains using Cre-lox Technology only apply in Canada, see Licenses for Strains using Cre-lox Technology.

For additional Licensing and Use Restrictions view the link(s) below:
- Use of MICE by companies or for-profit entities requires a license prior to shipping.

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.
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