Allele/Variant

Dnm2tm2.1Ics

Species
Mus musculus
Symbol
Dnm2tm2.1Ics
Category
allele
Allele of gene
Dnm2
Transgenic Constructs
None
Synonyms
  • Dnm2K562E
Description
Exon 16 was replaced with one containing an A-to-G nucleotide change resulting in a lysine to glutamic acid substitution at amino acid 562 (p.K562E). In addition, protamine, cre- and selection marker cassettes flanked by loxP sites were inserted in intron 16-17 which were removed via cre-mediated recombination. The K562E mutation is associated with dominant-intermediate Charcot-Marie-Tooth type B disease.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Phenotype
Annotation details
Source
References
abnormal action potential
MGI
abnormal gait
MGI
abnormal muscle electrophysiology
MGI
abnormal neuromuscular synapse morphology
MGI
abnormal skeletal muscle fiber morphology
MGI
abnormal skeletal muscle fiber type ratio
MGI
decreased locomotor activity
MGI
decreased skeletal muscle fiber diameter
MGI
decreased skeletal muscle weight
MGI
decreased total tissue mass
MGI
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Disease Associations

Association
Disease Qualifier
Disease
Annotation details
Evidence
Source
References
is implicated inmyopathy
  • TAS
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