Allele/Variant

Ttnmdm

Species
Mus musculus
Symbol
Ttnmdm
Category
allele
Allele of gene
Ttn
Transgenic Constructs
None
Synonyms
  • mdm
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
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