A nucleotide substitution of ACG to ATG that results in an amino acid substitution of methionine for threonine at position 106 (T106M) was inserted into exon 4. This mutation does not affect its kinetics. A floxed neo cassette inserted upstream of exon 4 was removed by subsequent cre-mediated recombination. (J:128965)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count