Phenotypes Associated with This Genotype

Genotype
MGI:3037905

ht2

• Allelic Composition: Col6a1^tm1Gmb/Col6a1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

muscle

centrally nucleated skeletal muscle fibers ( J:51410 )

• although not very high, a significant increase is detected in the central nuclei, indicating muscle fiber regeneration

abnormal diaphragm morphology ( J:51410 )

• as in homozygous mutant mice, the highest frequency of altered fibers is noted in the diaphragm

abnormal intercostal muscle morphology ( J:51410 )

• necrotic fibers are detected

skeletal muscle necrosis ( J:51410 )

• muscle necrosis is present at all ages examined (3, 10, 20 and 40 days and 4 and 5 months after Evan's blue dye injection) in heterozygous mutant mice

• muscles in which necrotic fibers are detected include the diaphragm, intercostal muscle, as well as the external oblique and straight abdominal muscles, and the femoral medial large muscle

myopathy ( J:51410 )

• skeletal muscles of heterozygous mutant mice display signs of myopathy, including muscle necrosis and phagocytosis

• skeletal muscles of heterozygous mutants also show fiber necrosis, albeit to a lesser extent and severity than homozygous mutant mice

• alterations in muscle fibers have an early onset and a limited or absent progression and their pattern of distribution is independent of muscle type