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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
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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 B6C3Fe-a/a-mdm (Changed: 15-DEC-04 ) Type Mutant Stock; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N14+ Description
Mice homozygous for the muscular dystrophy with myositis spontaneous mutation (Ttnmdm) can be recognized at 12 days by an unusual stiff and humpbacked posture. Homozygous mutant mice become very stiff and immobile and most are dead by 2 months. Histological sections show severe muscular degeneration with acute chronic myositis. This mutant serves as a model for human tibial muscular dystrophy (TMD) and limb-girdle muscular dystrophy type 2J.Development
The muscular dystrophy with myositis mutation (mdm) arose spontaneously in 1980 at The Jackson Laboratory in the inbred strain C57BL/6J. It was maintained using ovarian transplant from a homozygous female in to a B6CBAF1 host that was bred to C57BL/6J and the heterozygous offspring were intercrossed. At generation N13 a host female was mated to a C3HeB/FeJ-a/a male making a hybrid B6C3Fe-a/a mdm/+ line. The strain was then maintained by breeding the host females to B6C3Fe-a/a F1 males then intercrossing the offspring, and was backcrossed onto the hybrid line to N14 when, in 1995, embryos were cryopreserved from intercrosses of heterozygous females and heterozygous males.
Related Strains
Strains carrying a allele
View Strains carrying a (104 strains)
Phenotype
Phenotype Information
Muscular Dystrophy, Limb-Girdle, Type 2J; LGMD2J - Models with phenotypic similarity to human disease where etiologies involve orthologs.1 Titin; TTN - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Ttnmdm/Ttnmdm
Background Not Specified
- life span-post-weaning/aging
- premature death (MGI Ref ID J:14016)
- mice become very stiff and immobile and most are dead by 2 months of age
- immune system phenotype
- myositis (MGI Ref ID J:14016)
- acute and chronic myositis
- muscle phenotype
- muscle degeneration (MGI Ref ID J:14016)
- myositis (MGI Ref ID J:14016)
- acute and chronic myositis
- skeleton phenotype
- kyphosis (MGI Ref ID J:14016)
- the entire thoracic and lumbar spine shows an exaggerated convex curvature by 12 days of age
Ttnmdm/Ttnmdm
involves: C57BL/6J
- life span-post-weaning/aging
- premature death (MGI Ref ID J:87870)
- mice die around 2 months of age
- growth/size phenotype
- decreased body weight (MGI Ref ID J:87870)
- weight is reduced to roughly half that of control mice at 24 days of age
- muscle phenotype
- *normal* muscle phenotype (MGI Ref ID J:87870)
- myofibrils were ultrastructurally similar to those of wild type myofibrils were ultrastructurally similar to those of wild-type
- the tension-generating capacity of soleus fibers was normal
This mouse can be used to support research in many areas including:Ttnmdm related
Neurobiology Research
Neuromuscular Defects
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Ttnmdm | ||
|---|---|---|---|
| Allele Name | muscular dystrophy with myositis | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | mdm; | ||
| Strain of Origin | C57BL/6J | ||
| Gene Symbol and Name | Ttn, titin | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | 1100001C23Rik; 2310036G12Rik; 2310057K23Rik; 2310074I15Rik; AF006999; AV006427; CMD1G; CMH9; CMPD4; CONNECTIN; D330041I19Rik; D830007G01Rik; DKFZp451N061; EOMFC; EST AF006999; FLJ26020; FLJ26409; FLJ32040; FLJ34413; FLJ39564; FLJ43066; HMERF; L56; LGMD2J; RIKEN cDNA 1100001C23 gene; RIKEN cDNA 2310036G12 gene; RIKEN cDNA 2310057K23 gene; RIKEN cDNA 2310074I15 gene; RIKEN cDNA D330041I19 gene; RIKEN cDNA D830007G01 gene; TMD; expressed sequence AV006427; mdm; muscular dystrophy with myositis; shru; shrunken head; | ||
| General Note | Genbank ID for this allele: AF426842, AF426843 | ||
| Molecular Note | A complex rearrangement involving the deletion of 3 bp of exon C and all of exons D and E (a total of 779 bp) and the in-frame insertion of a 5'-truncated LINE-1 retrotransposon (~2.4 kb). The deletion is predicted to elminate the final 21 residues of the CAPN3 binding site. Low levels of expression of the partial LINE sequence were detected by RT-PCR analysis. [MGI Ref ID J:74611] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Garvey SM; Rajan C; Lerner AP; Frankel WN; Cox GA. 2002. The Muscular Dystrophy with Myositis (mdm) Mouse Mutation Disrupts a Skeletal Muscle-Specific Domain of Titin. Genomics 79(2):146-9. [PubMed: 11829483] [MGI Ref ID J:74611]
Ttnmdm relatedGarvey SM; Rajan C; Lerner AP; Frankel WN; Cox GA. 2002. The Muscular Dystrophy with Myositis (mdm) Mouse Mutation Disrupts a Skeletal Muscle-Specific Domain of Titin. Genomics 79(2):146-9. [PubMed: 11829483] [MGI Ref ID J:74611]
Huebsch KA; Kudryashova E; Wooley CM; Sher RB; Seburn KL; Spencer MJ; Cox GA. 2005. Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain. Hum Mol Genet 14(19):2801-11. [PubMed: 16115818] [MGI Ref ID J:101746]
Lane PW. 1985. Muscular dystrophy with myositis (mdm) Mouse News Lett 73:18. [MGI Ref ID J:14016]
Lopez MA; Pardo PS; Cox GA; Boriek AM. 2008. Early mechanical dysfunction of the diaphragm in the muscular dystrophy with myositis (Ttnmdm) model. Am J Physiol Cell Physiol 295(5):C1092-102. [PubMed: 18753318] [MGI Ref ID J:142464]
Sedehizade F; Klocke R; Jockusch H. 1997. Expression of nerve-regulated genes in muscles of mouse mutants affected by spinal muscular atrophies and muscular dystrophies. Muscle Nerve 20(2):186-94. [PubMed: 9040657] [MGI Ref ID J:53205]
Witt CC; Ono Y; Puschmann E; McNabb M; Wu Y; Gotthardt M; Witt SH; Haak M; Labeit D; Gregorio CC; Sorimachi H; Granzier H; Labeit S. 2004. Induction and myofibrillar targeting of CARP, and suppression of the Nkx2.5 pathway in the MDM mouse with impaired titin-based signaling. J Mol Biol 336(1):145-54. [PubMed: 14741210] [MGI Ref ID J:87870]
Health & husbandry
Health & Colony Maintenance Information
Currently there no information available for this strain. This may be due to the supply level of this strain.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 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.
Additional Supply Details
| Pricing for International shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 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.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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Payment Terms and Conditions
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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 and Purchasing Information
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