Phenotypes Associated with This Genotype

Genotype
MGI:5514360

• Allelic Composition: Col6a3^tm1Chu/Col6a3^tm1Chu
• Genetic Background: B6.129-Col6a3^tm1Chu

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

Variable fiber size with many small sized fibers and increase in interstitial connective tissue between muscles of Col6a3^tm1Chu/Col6a3^tm1Chu mice

muscle

increased collagen deposition in the muscles ( J:198581 )

increased variability of skeletal muscle fiber size ( J:198581 )

centrally nucleated skeletal muscle fibers ( J:198581 )

decreased skeletal muscle weight ( J:198581 )

• at 4 months

skeletal muscle interstitial fibrosis ( J:198581 )

abnormal tendon collagen fibril morphology ( J:198581 )

• increase in the number of small diameter fibrils, abnormal fibrils and abnormally large diameter fibrils

abnormal muscle physiology ( J:198581 )

• absolute and specific twitch and tetanic contraction is reduced compared to in wild-type mice

abnormal skeletal muscle regeneration ( J:198581 )

myopathy ( J:198581 )

• mild

growth/size/body

decreased body weight ( J:198581 )

• at 1.5 to 2 years of age

skeleton

abnormal tendon collagen fibril morphology ( J:198581 )

• increase in the number of small diameter fibrils, abnormal fibrils and abnormally large diameter fibrils

vision/eye

vision/eye phenotype ( J:198581 )

N • corneal collagen fibrils are normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital muscular dystrophy		DOID:0050557	OMIM:254100	J:198581