Exon 1 was replaced with one in which nucleotide substitutions result in the amino acid substitution of glutamic acid, aspartic acid, and glutamic acid for the three arginines at positions 109 to 111. These arginines are necessary for DNA binding activity. An frt flanked neo cassette inserted downstream of exon 1 was removed by germ line, flp mediated recombination. (J:146638)
Basic Information
Insertion, Nucleotide substitutions
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count