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Phenotypes Associated with This Genotype
Genotype
MGI:6149568
Allelic
Composition
Ano5tm1Lrk/Ano5tm1Lrk
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ano5tm1Lrk mutation (0 available); any Ano5 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
N
• specific force of extensor digitorum longus (EDL) and tibialis anterior (TA) muscle contraction
• needle electromyography, evoked compound muscle action potential (CMAP) and electrical impedance myography (EIM) readings in hindlimbs
• intramuscular deposits in ~25% of fibers: irregularly contoured red areas upon trichrome staining, which are aggregates comprising densely packed accumulations of vesicular or tubular membranes or haphazardly oriented and loosely packed interconnecting tubular formations with fuzzy inner tubules
• sub-sarcolemmal accumulation of mitochondria
• degenerating mitochondria
• extensive delay in regeneration after cardiotoxin injection of tibialis anterior (TA) and gastrocnemius (GAS) muscle
• 15% reduction in specific force of diaphragm muscle contraction
• significantly reduced average muscle fiber diameter
• reduced average muscle fiber diameter
• specific force of contraction
• extensive delay in regeneration after cardiotoxin injection of tibialis anterior (TA) and gastrocnemius (GAS) muscle
• mean fiber diameter of tibialis anterior (TA) and gastrocnemius (GAS) muscle remained significantly reduced 3 months after last cardiotoxin injection
• impaired myoblast progenitor cell fusion in vitro: only 48% of cells fused to form multi-nucleated myotubes (vs 74% wild-type); myotubes shorter, and many with ovoid shape; lower average number of nuclei per myotube
• prone to frequent breaks during 1h/week 2 months treadmill exercise regime

cellular
• degenerating mitochondria in skeletal muscle
• sub-sarcolemmal accumulation of mitochondria in skeletal muscle
• extensive delay in regeneration after cardiotoxin injection of tibialis anterior (TA) and gastrocnemius (GAS) muscle
• significantly reduced citrate synthase activity in skeletal muscle
• degenerating mitochondria in skeletal muscle

homeostasis/metabolism


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/16/2021
MGI 6.16
The Jackson Laboratory