An FRT-flanked neomycin resistance cassette replaced exon 55 and parts of intron 54 and 55. Flp-mediated recombination removed the resistance cassette. Western blot analysis confirmed a severe reduction in protein expression in skeletal muscles. This allele is hypomorphic. (J:206854)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count