The entire tandem repeat region was replaced by a Neo/loxP cassette which was later removed by crossing to a Cre recombinase transgenic strain, leaving one loxP site. The enhancer, matrix attachment regions and the I exon were left intact. (J:99465)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count