A sequence within exon 23 beginning with nucleotide 51 was replaced with the corresponding human cDNA encoding the C terminus of the gene and a stop codon. A loxP flanked neo was inserted into intron 23 and subsequently deleted via transient cre expression, leaving a single loxP site. Immunoprecipitation and Western blotting confirmed successful targeting and the presence of a chimeric mouse-human protein in mutants. (J:95855)
Basic Information
Disruption caused by insertion of vector
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count