A lacZ gene with a nuclear localization signal and a neo cassette was inserted in frame at the A8 codon in exon 2. The absence of protein product was confirmed by immunohistochemistry on muscle fibers. This is a null allele. (J:132177)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count