Phenotypes associated with this allele

• Allele Symbol: Col6a3^tm2.1Chu
• Allele Name: targeted mutation 2.1, Mon-Li Chu
• Allele ID: MGI:5565209
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col6a3^tm2.1Chu/Col6a3^tm2.1Chu	B6.129(Cg)-Col6a3^tm2.1Chu	MGI:5565210
ht2	Col6a3^tm2.1Chu/Col6a3^+	B6.129(Cg)-Col6a3^tm2.1Chu	MGI:5565211

Genotype
MGI:5565210

hm1

• Allelic Composition: Col6a3^tm2.1Chu/Col6a3^tm2.1Chu
• Genetic Background: B6.129(Cg)-Col6a3^tm2.1Chu

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

cellular

abnormal mitochondrial shape ( J:208903 )

• mitochondria from gastrocnemius muscles of 1 month old mice are enlarged and irregularily shaped

muscle

abnormal muscle fiber morphology ( J:208903 )

• increase in endomysial matrix at 6 months of age as compared to controls

• collagen VI tetramers from mutant fibroblasts can not assemble into long microfibrils, as a result, the amount of collagen VI microfibrils is decreased in the extracellular matrix of mutant fibroblasts

• immunostaining of coronal sections from E17 embryos exhibit an amorphous, rather than a fibrous, pattern of collagen VI

• collagen fibers in endomysial connective tissue are disorganized

dilated sarcoplasmic reticulum ( J:208903 )

• sarcoplasmic reticula is distended in gastrocnemius muscles of 1 month old mice

increased variability of skeletal muscle fiber size ( J:208903 )

• mutants exhibit a wide distribution of muscle fiber sizes

• mice exhibit more small and large fibers at 6 months of age as compared to controls

centrally nucleated skeletal muscle fibers ( J:208903 )

• myofibers with centrally located nuclei are observed in quadriceps and diaphragm muscles at 1,3, 6 and 12 months of age

abnormal tendon morphology ( J:208903 )

• tenocyte organization is disrupted

• extracellular domains containing collage fiber are poorly organized

abnormal tendon cell morphology ( J:208903 )

• tenocyte organization is disrupted

abnormal tendon collagen fibril morphology ( J:208903 )

• collagen fibers from tendons of 1 month old mice appear less organized and sparse as compared to controls

• some fibrils are large with cauliflower-like fibril contours and small diameter fibrils

• most abnormal fibrils are in the pericellular regions

myopathy ( J:208903 )

• progressive myopathy

skeleton

abnormal tendon morphology ( J:208903 )

• tenocyte organization is disrupted

• extracellular domains containing collage fiber are poorly organized

abnormal tendon cell morphology ( J:208903 )

• tenocyte organization is disrupted

abnormal tendon collagen fibril morphology ( J:208903 )

• collagen fibers from tendons of 1 month old mice appear less organized and sparse as compared to controls

• some fibrils are large with cauliflower-like fibril contours and small diameter fibrils

• most abnormal fibrils are in the pericellular regions

Genotype
MGI:5565211

ht2

• Allelic Composition: Col6a3^tm2.1Chu/Col6a3⁺
• Genetic Background: B6.129(Cg)-Col6a3^tm2.1Chu

cellular

abnormal mitochondrial shape ( J:208903 )

• mitochondria from gastrocnemius muscles of 1 month old mice are enlarged and irregularily shaped

muscle

abnormal muscle fiber morphology ( J:208903 )

• increase in endomysial matrix at 6 months of age as compared to controls

• collagen fibers in endomysial connective tissue are disorganized

• collagen VI tetramers from mutant fibroblasts can not assemble into long microfibrils, as a result, the amount of collagen VI microfibrils is decreased in the extracellular matrix of mutant fibroblasts

• immunostaining of coronal sections from E17 embryos exhibit an amorphous, rather than a fibrous, pattern of collagen VI

dilated sarcoplasmic reticulum ( J:208903 )

• sarcoplasmic reticula is distended in gastrocnemius muscles of 1 month old mice

increased variability of skeletal muscle fiber size ( J:208903 )

• mutants exhibit a wide distribution of muscle fiber sizes

• mice exhibit more small and large fibers at 6 months of age as compared to controls

centrally nucleated skeletal muscle fibers ( J:208903 )

• myofibers with centrally located nuclei are observed in quadriceps and diaphragm muscles at 1,3, 6 and 12 months of age

abnormal tendon morphology ( J:208903 )

• tenocyte organization is disrupted

• extracellular domains containing collage fiber are poorly organized

abnormal tendon cell morphology ( J:208903 )

• tenocyte organization is disrupted

abnormal tendon collagen fibril morphology ( J:208903 )

• collagen fibers from tendons of 1 month old mice appear less organized and sparse as compared to controls

• some fibrils are large with cauliflower-like fibril contours and small diameter fibrils

• most abnormal fibrils are in the pericellular regions

impaired skeletal muscle contractility ( J:208903 )

• reduced muscle contractile function at 8 months but not 3 months

• twitch contraction force from extensor digitorum longus muscle is reduced

myopathy ( J:208903 )

• progressive myopathy

skeleton

abnormal tendon morphology ( J:208903 )

• tenocyte organization is disrupted

• extracellular domains containing collage fiber are poorly organized

abnormal tendon cell morphology ( J:208903 )

• tenocyte organization is disrupted

abnormal tendon collagen fibril morphology ( J:208903 )

• collagen fibers from tendons of 1 month old mice appear less organized and sparse as compared to controls

• some fibrils are large with cauliflower-like fibril contours and small diameter fibrils

• most abnormal fibrils are in the pericellular regions

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Ullrich congenital muscular dystrophy		DOID:0050558		J:208903