A G-to-C mutation resulting in an arginine to histidine substitution at amino acid 334 (p.R334H) was introduced in exon 10 and a loxP-flanked cassette containing neomycin resistance and thymidine kinase genes was inserted into intron 9. Cre-mediated recombination removed the selection cassette. This is a mutation associated with variable tumor susceptibility in humans. (J:305549)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count