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Ttnmdm
Spontaneous Allele Detail
Nomenclature
Symbol: Ttnmdm
Name: titin; muscular dystrophy with myositis
MGI ID: MGI:1856953
Synonyms: mdm
Gene: Ttn  Location: Chr2:76703980-76982547 bp, - strand  Genetic Position: Chr2, 45.13 cM, cytoband D
Ttnmdm/Ttnmdm

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Transposon insertion
 
Mutation detailsA 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. (J:74611)
Inheritance:    Recessive
Phenotypes
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Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Ttn Mutation:  21 strains or lines available
Notes
Genbank ID for this allele: AF426842, AF426843

References
Original:  J:14016 Lane PW, Muscular dystrophy with myositis (mdm). Mouse News Lett. 1985;73:18
All:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/20/2015
MGI 5.21
The Jackson Laboratory