A threonine to glutamate substitution at amino acid 906 (T906E) and a threonine to glutamate substitution at amino acid 1007 (T1007E) were inserted into exons 22 and 24, respectively. A loxP-flanked neomycin selection cassette inserted between exons 22 and 23 was removed via cre-mediated recombination. (J:281008)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count