Disease relevance of mdf

• Among the murine spinal muscular atrophies, the programmed cell death of the mdf motoneurons is morphologically similar to wobbler [1].
• However, muscle phosphorylase gene structure and expression appear to be unaltered in mdf/mdf mice, indicating that this mutation is not an animal model for the human genetic disorder McArdle's disease [2].
• Muscle-deficient embryos had a cleft palate and abnormalities of the lower jaw, raising the possibility that they might serve as a mouse model for the human disorder, Robin sequence [3].

High impact information on mdf

• The fkh-2 gene maps to chromosome 19B and is a candidate gene for the mouse mutation mdf (muscle-deficient) which is characterized by nervous tremors and degeneration of the hindlimb muscles [4].
• An astrogliosis, restricted to the ventral horn of the spinal cord, occurs in mdf/mdf mice of 10 weeks of age [1].
• A high-resolution genetic map of mouse chromosome 19 encompassing the muscle-deficient osteochondrodystrophy (mdf-ocd) region [5].

Biological context of mdf

• Muscle deficient (mdf) is an autosomal-recessive mutation mapped to mouse chromosome 19 [1].

References