Exons 6, 7, and 8 were replaced with a cassette containing a neomycin resistance gene, a single loxP site, and a 5' portion of an hprt minigene. Sequence analysis of RT-PCR products verified the deletion of the targeted exons and the splicing of exon 5 to exon 9, resulting in frameshift and consequent nonsense mutation. The transcript encodes a truncated protein containing 2 putative SH3-binding domains. The single loxP site was inserted for use as a centromeric anchor point for a larger deletion extending from the rhoGAP domain of Arhgap6 through a 5' untranslated exon of Mid1, recapitulating a deletion associated with human MLS. (J:80946)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count