Exons 17 through 21 and part of 22, encoding residues 656 to 977, including the C-terminal end of the head domain and the N-terminal end of the rod domain, were replaced with a neo. Recombination was verified by Southern blot and PCR. Protein was not detected in mutants by Western blot. (J:91578)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count