Phenotypes Associated with This Genotype

Genotype
MGI:4360111

ht8

• Allelic Composition: Dmd^mdx/Dmd⁺
• Genetic Background: involves: C57BL/10ScSn

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

muscle

abnormal skeletal muscle fiber morphology ( J:121251 )

♀ • consistent with X-inactivation, heterozygous females have a mosaic absence of dystrophin, but this diminishes with age such that at 10 days of age 37% of the fibers in a cross section of the quadriceps lack dystrophin staining, at 35 days of age only 18% of fibers lack dystrophin, and by 60 days of age only 4% lack dystrophin, in extraocular muscles the proportions of dystrophin expressing and non-expressing fibers is similar and in cardiac ventricular muscle approximately 30% of fibers lack dystrophin at 10 days of age, and 28% lack dystrophin at 60 days of age

♀ • unlike hemizygotes or homozygotes, necrosis of muscle fibers is very rare