Fukutin Related Protein Mutations LGMD2I

Fukutin related protein (FKRP) helps to glycosolate a-dystroglycan, a component of the DGC. Two murine lines were recently generated with knock-in mutations in FKRP. The first, FKRPTyr307Asn , has a point mutation common to human patients with LGMD2I and other FKRP mutation diseases. However, FKRPTyr307Asn mice did not have any discernable abnormal phenotype. The second line, FKRP-NeoTyr307Asn, has a missense mutation with a retained neomycin selection cassette, which results in a null allele. Homozygous mice with this mutation showed reduced levels of FKRP transcripts and perinatal fatality. Histology of muscle demonstrates edema and hypogly-cosylation of a-dystroglycan. Other phenotypic abnormalities found in this model affect the eye and brain in a manner similar to other diseases with alterations in FKRP (Ackroyd et al. 2009). These two lines will aid in the elucidation the function of FKRP in muscle cell biology and its role in eye and brain development.

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