A neomycin resistance cassette was inserted into exon 2 which encodes amino acids 18-58. Northern blot and RT-PCR analysis on RNA derived from skeletal muscle detected a larger transcript in homozygous mice than in wild-type. Western blot analysis confirmed that no full length protein is expressed from this allele. (J:18895)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count