Nucleotide changes resulted in the amino acid substitution of serine to alanine at positions 52 and 178. Cre-mediated recombination removed the neomycin resistance cassette inserted in intron 2. (J:269801)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count