The 5' half of the exon 2 was flanked with loxP sites, with the insertion of a stop codon and a neo at the 3' loxP site. Transcript resulting from this locus contains sequence encoding the N-terminal half of the protein and the neo and was detected in Northern blot. (J:104192)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count