Ttn^mdm
Spontaneous Allele Detail

Summary

• Symbol: Ttn^mdm
• 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: Ttn^mdm page

Ttn^mdm/Ttn^mdm

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 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

Disease models

Expression

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

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: 1457 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: 20 reference(s)