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Phenotypes Associated with This Genotype
Genotype
MGI:2450940
Allelic
Composition
Col13a1tm1Pih/Col13a1tm1Pih
Genetic
Background
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col13a1tm1Pih mutation (1 available); any Col13a1 mutation (70 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• following an acute exercise protocol, 8-10 week-old male homozygotes display a more intense inflammation of the quadriceps femori and gastrocnemius muscles than age-matched wild-type males
• at 17 weeks of age, mutant skeletal muscle fibers display a wavy sarcolemma
• mutant skeletal muscle fibers display streaming of z-bands
• aging homozygotes display focal ultrastructural abnormalities in skeletal muscle, including:
• reduced muscle fiber diameter along with vacuolization, disorganization of myofilaments, and streaming of z-disks
• disorganized and fuzzy-looking plasma membrane-basement membrane interphase along the muscle fiber and at the myotendinous junctions
• increased frequency and severity of skeletal muscle abnormalities with advancing age
• no obvious signs of necrosis or regeneration of the abnormal fibers
• at 17 weeks of age, mutant skeletal muscle fibers have an uneven appearance in H&E stainings, with rough edges and a wavy sarcolemma
• mutant skeletal muscle fibers are smaller in diameter than wild-type fibers
• at 43 weeks age, mutant skeletal myofibrils are disorganized and display z-band streaming and vacuolization indicative of muscle cell degeneration
• progressive muscular myopathy

homeostasis/metabolism
• when subjected to running on a motor-driven treadmill, some 8-10 week-old male homozygotes, but not age-matched wild-type males, begin to show signs of exhaustion during the last 2 hours of the exercise protocol
• at 8-10 weeks of age, male homozygotes display a higher sensitivity to acute exercise-induced muscle injury than wild-type males, as indicated by histopathology and beta-glucuronidase activity studies in quadriceps femori samples
• the increase in beta-glucuronidase activity between exercised and unexercised mutant runners is 311% vs 190% between exercised and unexercised wild-type runners
• although muscle damage varies between individuals, mutant runners generally have more numerous skeletal muscle fibers undergoing degeneration and more intensive inflammation than wild-type runners

cellular
• in the presence of a serum-containing medium, mouse embryonic fibroblasts (MEFs) derived from E13.5 mutant embryos display an 8%-15% reduction in adherence to uncoated wells relative to wild-type MEFs
• a more severe reduction in adhesion is observed when mutant MEFs are plated on type IV collagen-coated wells in a serum-free medium
• after centrifugation, mutant MEF cell pellets detach from the tubes more readily than wild-type cell pellets
• at 17 weeks of age, the basement membranes between mutant skeletal muscle fibers appear highly uneven and fuzzy in H&E and immunofluorescence stainings
• the basement membranes attached to skeletal muscle fibers are particulalry abnormal at the myotendinous junctions
• basement membrane detachment is observed at 43 weeks of age

immune system
• following an acute exercise protocol, 8-10 week-old male homozygotes display a more intense inflammation of the quadriceps femori and gastrocnemius muscles than age-matched wild-type males

behavior/neurological
• when subjected to running on a motor-driven treadmill, some 8-10 week-old male homozygotes, but not age-matched wild-type males, begin to show signs of exhaustion during the last 2 hours of the exercise protocol


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
03/12/2024
MGI 6.23
The Jackson Laboratory