Phenotypes Associated with This Genotype

Genotype
MGI:5576977

• Allelic Composition: Col12a1^tm1Debi/Col12a1^tm1Debi
• Genetic Background: Not Specified

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

behavior/neurological

limb grasping ( J:209074 )

• decrease in hindlimb splaying when on tail suspension

decreased grip strength ( J:209074 )

muscle

abnormal sarcolemma morphology ( J:209074 )

• contour of the sarcolemma of individual muscle fibers has a more wavy appearance at P3 and P30

abnormal skeletal muscle morphology ( J:209074 )

• soleus shows an increase in fast fiber type IIa and a decrease in slow fiber type I

• tibialis anterior muscle shows an increase of fiber type IIb and decrease of fiber type IIx

• distribution of large collagen fibrils in the endomysium is different from wild-type, with fibrils more located in the middle of the endomysium instead of in close proximity to the basement membrane

abnormal quadriceps morphology ( J:209074 )

• mild increase in central nucleation in the quadriceps muscle, however no degeneration and regeneration are seen

decreased skeletal muscle weight ( J:209074 )

• absolute weights of tibialis anterior, gastrocnemius, quadriceps, and extensor digitorum longus muscles are lower

abnormal muscle physiology ( J:209074 )

• isometric tetanic force production is depressed by 18% in extensor digitorum longus (EDL) muscles, leading to a lower specific force

• EDL shows less force drop on the eccentric contraction paradigm in the muscle

• EDL shows a decrease in passive force generation, particularly at higher amplitudes of stretch

skeleton

kyphoscoliosis ( J:209074 )

abnormal vertebral spinous process morphology ( J:209074 )

• doubling of the spinous process

limbs/digits/tail

abnormal quadriceps morphology ( J:209074 )

• mild increase in central nucleation in the quadriceps muscle, however no degeneration and regeneration are seen