A C to G mutation resulting in an arginine to glycine substitution at amino acid 95 (R95G) was introduced in exon 3. In addition, a loxP-flanked neomycin cassette was inserted in the third intron. Cre-mediated recombination removed the neomycin cassette. (J:236751)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count