A point mutation (T to G) results in the amino acid substitution of cysteine with glycine at position 1837 (p.C1837G). Cre-mediated recombination removed the loxP site flanked neomycin resistance gene cassette. (J:203482)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count