A sequence including nucleotides 253-987, over 60% of the coding region including the ankyrin repeats, was deleted from the locus. Western blot confirmed the absence of protein in lungs from mutant mice. (J:113618)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count