The Mnx1 (homeobox HB9) promoter drives the expression of a C-terminally Myc-tagged mouse mitofusin 2 with the T105M mutation found in families with Charcot-Marie-Tooth disease type 2A followed by an IRES and an EGFP in motor neurons. Western blot analysis with an anti-Myc antibody confirmed expression of the transgene. Sequence analysis of the insertion site indicates that the transgene inserted into a non-coding region on chromosome 11 between genes Rad51c and Ppm1e. (J:132035)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count