The human promoter was used to drive ubiquitous expression of the mouse gene with a silent point mutation at position 1077 (c.1077C->G) that forms a restriction enzyme site and allows for the insertion of 39 nucleotides. This produces a duplication of amino acids 353 to 365. Four lines were produced (C, D, E, and F) with line D selected as the representative line. (J:104378)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count