Model organisms have been used in the study of MYO7A function. A spontaneous mutant mouse line, called
Myo7ash1-6J was generated. Male and female animals underwent a standardized
phenotypic screen to determine the effects of deletion. Twenty three tests were carried out on
mutant mice and ten significant abnormalities were observed. Male
homozygous mutant mice displayed a decreased body weight, a decrease in body fat, improved
glucose tolerance and abnormal
pelvic girdle bone morphology. Homozygous mutant mice of both sex displayed various abnormalities in a modified
SHIRPA test, including abnormal gait, tail dragging and an absence of
pinna reflex, a decrease in
grip strength, an increased thermal
pain threshold, severe
hearing impairment and a number of abnormal
indirect calorimetry and
clinical chemistry parameters. == References ==