Exons 7 through 12 were replaced with the corresponding sequence with nucleotide substitutions that result in the amino acid substitution of phenylalanine for tyrosine at positions 98, 121, 139, 160 and 192. A floxed neo cassette was inserted downstream of exon 6 and removed by cre-mediated recombination. (J:181866)
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