A neomycin selection cassette was inserted into exon 20. RT-PCR analysis demonstrated that a mutant transcript was produced from this allele at normal expression levels. A truncated protein lacking the last BCRT repeat is predicted to be expressed from this allele. (J:69602)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count