A C to A transversion is located at nucleotide 2075 in exon 13 resulting in a Thr to Lys substitution at position 629. This mutation was found in YTC-1 cells used to generate a line of Ppargtm2Mae mice, but not in YTC-2 cells used to generate a second line of the same targeted mutation. (J:110607)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count