An ACA to GCC change resulting in a threonine to alanine substitution at amino acid 906 (T906A) and an ACC to GCC change resulting in a threonine to alanine substitution at amino acid 1007 (T1007A) were inserted into exons 22 and exon 24, respectively. A loxP-flanked neomycin selection cassette inserted between exon 22 and 23 was removed via cre-mediated recombination. (J:265906)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count