V380E (GTG to GAG; exon 10) and I391V (ATT to GTG; exon 11) mutations were introduced to the gene via homologous recombination. A loxP/FRT-flanked neomycin cassette placed in intron 9 was excised in the ES cells expressing FLP recombinase, leaving one set of loxP/FRT sites. The humanized mutations create sensitivity to thalidomide analogues in the mouse. (J:326489)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count