Phenotypes associated with this allele

• Allele Symbol: R3hdml^tm1Mita
• Allele Name: targeted mutation 1, Minoru Takemoto
• Allele ID: MGI:6385112
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	R3hdml^tm1Mita/R3hdml^tm1Mita	B6.Cg-R3hdml^tm1Mita	MGI:6385120

Genotype
MGI:6385120

hm1

• Allelic Composition: R3hdml^tm1Mita/R3hdml^tm1Mita
• Genetic Background: B6.Cg-R3hdml^tm1Mita

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

growth/size/body

decreased body weight ( J:282737 )

• body weight is lower at 20 weeks of age

• however, white fat mass and femoral length are normal

muscle

abnormal skeletal muscle satellite cell proliferation ( J:282737 )

• satellite cells grown in culture exhibit decreased proliferative activity

• however, the number of satellite cells per myofiber is not different

abnormal quadriceps morphology ( J:282737 )

• diameter of the rectus femoris is shorter

abnormal muscle development ( J:282737 )

• expression of skeletal muscle cell development and proliferation-related markers is disturbed

abnormal sarcomere morphology ( J:282737 )

• shorter and denser sarcomeres at P0

• A bands and I bands are not easily distinguishable and the alignment of myosin and actin filaments is disorganized at P0

• however, the shorter and denser sarcomeres are not seen in 3 month old mice

diffuse Z line ( J:282737 )

• diffuse Z lines at P0 and 3 months of age

abnormal skeletal muscle fiber morphology ( J:282737 )

• muscle fiber disorganization

decreased skeletal muscle fiber diameter ( J:282737 )

• diameter of the rectus femoris is shorter

• however, the diameter of the femur is not changed

decreased skeletal muscle weight ( J:282737 )

• leg muscle weight is lower at 20 weeks of age

impaired skeletal muscle regeneration ( J:282737 )

• mice injected with CTX into skeletal muscle show a slower muscle strength recovery than controls and show a reduced number of satellite cells in the skeletal muscle indicating skeletal muscle cell degeneration defects

• satellite cells show reduced self-renewal and differentiation abilities in culture

cellular

abnormal skeletal muscle satellite cell proliferation ( J:282737 )

• satellite cells grown in culture exhibit decreased proliferative activity

• however, the number of satellite cells per myofiber is not different

limbs/digits/tail

abnormal quadriceps morphology ( J:282737 )

• diameter of the rectus femoris is shorter