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Phenotypes Associated with This Genotype
Genotype
MGI:6401817
Allelic
Composition
Col6a1tm1Sngi/Col6a1tm1Sngi
Genetic
Background
B6.Cg-Col6a1tm1Sngi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col6a1tm1Sngi mutation (0 available); any Col6a1 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• smaller body weight throughout life

behavior/neurological
• grip test shows limb muscle weakness after 14 weeks of age, but weakness is not progressive
• voluntary wheel running locomotion is reduced

muscle
• membrane indentation of myofibers is fewer and the lag in increment of myofibers starts at day 15, indicating a defect in muscle growth
• the number of mesenchymal progenitor cells is increased in skeletal muscles, even at 30 weeks of age
• the number of mesenchymal progenitor cells is increased in skeletal muscles, even at 30 weeks of age
• mesenchymal progenitor cells are elongated and detached from the basement membrane instead of being round or ovoid shape and juxtaposed to the basement membrane
• myofibers smaller than 15 um are increased
• the number of myonuclei per myofiber is increased
• however, total number of myonuclei in tibialis anterior muscle is normal
• reduction in the total number of myofibers after 3 weeks of age but not at P1
• however, no differences in individual myofiber diameter are seen
• decrease in muscle size and cross-sectional areas
• muscles are smaller at 30 weeks of age but have no dystrophic changes, necrosis or centrally-placed nuclei
• endomysial fibrosis is notable after 20 weeks of age
• tibialis anterior muscle and gastrocnemius muscle contractile forces, including twitch and tetanic contractions, are lower
• specific forces are reduced in twitch contraction
• mice show non-progressive mild muscle weakness

homeostasis/metabolism
• serum IGF-1 level is 80% that of controls at P15
• impaired glucose tolerance without insulin resistance
• following cardiotoxin injections to muscles to induce necrosis/regeneration, muscles how marked fiber size variation and endomysial fibrosis and an increase in muscle-retained mesenchymal progenitor cells indicating persistence of muscle regeneration
• however, no delay or defects in muscle regeneration process are seen following cardiotoxin injection

skeleton
N
• no apparent abnormalities in bone, joint, or skin are seen

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Ullrich congenital muscular dystrophy DOID:0050558 OMIM:254090
J:278926


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
06/23/2022
MGI 6.20
The Jackson Laboratory