A knock in strategy was used to introduce a loxP-Stop-loxP transcriptional stop element upstream of exon 2 and p.L25Q and p.W26S substitutions into exon 2 (TTATGG>CAATCG). Northern and Western blots of mutant MEFs treated with adeno-virus cre demonstrated that transcript and protein were expressed, respectively. No expression is seen without Cre expression. (J:96433)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count