The transgene consists of the cDNA and intron 4 of the mouse progressive external ophthalmoplegia 1 gene under the control of the human beta actin promoter. RT-PCR analysis of muscle and heart tissues detected transgene expression. Southern blot analysis estimated founder line A contains 3 to 4 copies of the transgene, and founder line B contains 1 to 2 copies of the transgene. The A mice displayed a 6 fold increase of Twinkle mRNA in skeletal muscle and 8.4 fold increase in heart, whereas the B mice had a 1.5 fold and 4.2 fold increase in the respective tissues. The pound symbol (#) is used when no line is specified and/or lines are pooled. (J:95313)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count