The open reading frame was replaced with a construct containing a 5' floxed neo cassette, a cDNA encoding the Thra open reading frame with a nucleotide substitution that results in an amino acid substitution of arginine for leucine at position 400 (L400R), and a 3' IRES-Tau-lacZ cassette. The L400R mutation is thought to place the receptor in an unliganded state and create a dominant negative receptor. Expression of the mutant receptor and lacZ is only achieved by cre-mediated removal of the floxed neo cassette. Western blot analysis was used to confirm expression of the mutant receptor following cre-mediated recombination. (J:125353)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count