A loxP site was inserted upstream of exon 17. A STOP and FRT-flanked neo cassette with a 3' loxP site followed by a modified exon 17, in which nucleotide substitution results in the amino acid substitution of a stop codon at position 932, was inserted downstream of the endogenous exon 17. The predicted protein is truncated at position 932 (delta932). Flp-mediated recombination removed the neo cassette. (J:175865)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count