Exon 2 was replaced with a modified exon 2 in which a point mutation (T to G) that results in the amino acid substitution of alanine for serine at position 79 (S79A). Cre-mediated recombination removed the floxed neomycin resistance cassette inserted downstream of exon 2. (J:204196)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count