The endogenous gene has been modified so that a 515-base pair segment of the genomic sequence containing some of intron 57 and the 5' end of exon 58, including the sequence encoding the last six amino acids and the translation termination codon, is flanked by loxP sites and followed by a cassette containing an internal ribosome entry site (IRES) and a fusion of the bacterial beta-galactosidase and neomycin resistance genes (Beta-geo). The mutation is designed to conditionally delete the C-terminal 6 amino acids essential for kinase activity. (J:92252)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count