MYO5A

Myosin-Va is a protein that in humans is encoded by the MYO5A gene.

Interactions

MYO5A has been shown to interact with DYNLL1, RAB27A and DYNLL2.

Clinical significance

Defects are associated with Griscelli syndrome type 1, also known as Elejalde syndrome.

Model organisms

Myo5a knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Abnormal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Micronucleus test	Normal
Heart weight	Normal
Tail epidermis wholemount	Abnormal
Skin Histopathology	Normal
Brain histopathology	Normal
Salmonella infection	Abnormal
Citrobacter infection	Normal
All tests and analysis from

Model organisms have been used in the study of MYO5A function. A conditional knockout mouse line, called Myo5a^{tm1e(KOMP)Wtsi} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty five tests were carried out on mutant mice and three significant abnormalities were observed. Male homozygous mutants had abnormal hair cycles, coat colouration and an increased susceptibility to bacterial infection.

See also

• Myosin