A point mutation, G to A at position 769, in exon 4 resulting in a glutamate to lysine substitution at amino acid 257 (E257K) and a FRT-flanked neomycin cassette downstream of exon 4 were introduced via homologous recombination. (J:267630)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count