The deletion of 3 base pairs (GRCm39:chr14:4439427_4439429delGTG, p.T337del) in exon 9, corresponding to a deletion that results in thyroid horomone resistance in humans, was introduced via site-directed mutagenesis along with a neomycin selection cassette inserted into intron 8. The mutation affects the ligand-binding domain in the encoded peptide, which is common to both isoforms produced from this locus. (J:77623)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count