Phenotypes Associated with This Genotype

Genotype
MGI:3798621

• Allelic Composition: Dmd^mdx-5Cv/Y
• Genetic Background: B6Ros.Cg-Dmd^mdx-5Cv

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

muscle

muscle phenotype ( J:177391 )

♂N • limb and diaphragm muscle weights are similar to controls in mice at 1 year of age

abnormal diaphragm morphology ( J:23502 )

♂ • mice exhibit fibrosis, fatty infiltration and necrosis in the diaphragm unlike in wild-type mice that increases with age

skeletal muscle fibrosis ( J:23502 , J:177391 )

♂ • mice exhibit progressive fibrosis of the diaphragm with age, unlike in wild-type mice (J:23502)

♂ • increased collagen deposition in the diaphragm and quadriceps muscles between 12 weeks and 1 year of age (J:177391)

impaired skeletal muscle contractility ( J:177391 )

♂ • decrease in the tetanic force produced by the diaphragm muscle compared to wild-type controls and mice hemizygous for Dmd^mdx

♂ • however, the decrease in the tetanic force produced by the extensor digitorum longus muscle is similar to mice hemizygous for Dmd^mdx

increased muscle fatigability ( J:177391 )

♂ • the diaphragm muscle shows enhanced susceptibility to fatigue in a repetitive isometric contraction protocol compared to wild-type controls and mice hemizygous for Dmd^mdx

behavior/neurological

impaired coordination ( J:177391 )

♂ • significant motor deficit is detected in a rotarod assay at 6 - 20 weeks of age

decreased grip strength ( J:177391 )

♂ • in fore and hind paws

abnormal gait ( J:177391 )

♂ • the hind paw does not always land on the same position as the front paw

♂ • increased hind paw base width

short stride length ( J:177391 )

♂ • at 8 weeks, 12 weeks and 1 year of age

fatigue ( J:177391 )

♂ • display extreme fatigue after 15 min of downhill treadmill running

♂ • by 8 weeks of age show maximum decreases in both ambulation and rearing events after exercise, earlier than in mice hemizygous for Dmd^mdx

♂ • by 12 weeks of age show a decrease in distance traveled after exercise compared to wild-type controls and mice hemizygous for Dmd^mdx

♂ • response to exercise induced fatigue is uniform across individuals unlike in mice hemizygous for Dmd^mdx

adipose tissue

decreased body fat mass ( J:177391 )

♂ • decrease in the accumulation of abdominal fat compared to wild-type controls

growth/size/body

decreased body fat mass ( J:177391 )

♂ • decrease in the accumulation of abdominal fat compared to wild-type controls

decreased body weight ( J:177391 )

♂ • between 8 and 20 weeks of age compared to wild-type controls

♂ • lower than in mice hemizygous for Dmd^mdx at most ages tested

♂ • however, body size as determined by measures of tibia length or body length is similar to wild-type controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Duchenne muscular dystrophy		DOID:11723	OMIM:310200	J:177391