Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | Notes | References

Symbol: Ttnmdm Name: titin; muscular dystrophy with myositis MGI ID: MGI:1856953 Synonyms: mdm Gene: Ttn  Location: Chr2:76534324-76812891 bp, - strand  Genetic Position: Chr2, 45.13 cM, cytoband D Alliance: Ttnmdm page

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

Strain of Origin:

C57BL/6J

Allele Type:    Spontaneous Mutation:    Transposon insertion   Mutation details: 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. (J:74611) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

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:	1457 strains or lines available

Original:	J:14016 Lane PW, Muscular dystrophy with myositis (mdm). Mouse News Lett. 1985;73:18
All:	20 reference(s)