A lacZ/neo cassette was inserted into exon 5. The absence of protein product was confirmed by western blot analysis on skin fibroblast extracts. This is a null allele that disrupts expression of both the long and short forms. (J:133255)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count