A point mutation (CGC to CAC) results in the amino acid substitution of histidine for arginine at position 206 (R206H). An FRT-flanked neo cassette was inserted downstream of the modified exon 5. (J:194134)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count