The targeting construct inserted into the locus contained a CAG promoter that drives ubiquitous expression of the human cDNA with nucleotide substitutions that result in the amino acid substitution of threonine for alanine at position 230 (A230T) preceded by a floxed STOP cassette and followed by an IRES and the truncated human CD2 tag. Cre-mediated recombination removed the floxed STOP cassette. (J:196002)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count