About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
targeted mutation 1, Satoru Noguchi
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
Col6a1tm1Sngi/Col6a1tm1Sngi B6.Cg-Col6a1tm1Sngi MGI:6401817

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
• smaller body weight throughout life

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

• 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

• 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

• 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

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
MGI 6.22
The Jackson Laboratory