A floxed neo/STOP cassette was inserted upstream of a modified exon 4 in which nucleotide substitution results in the amino acid substitution of glutamine for arginine at position 132 (R132Q). (J:220318)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count