A tyrosine to phenylalanine substitution at amino acid 90 (p.Y90F) was introduced via homologous recombination. The resulting protein product is enzymatically inactive yet retains structural integrity and DNA binding ability. The Y90F point mutation was verified via RT-PCR and restriction digest analysis of RNA transcripts from mutant animals. (J:75891)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count