Exon 4, which contains part of the CDP-alcohol phosphatidyltransferase domain, was flanked by loxP sites. Cre-mediated deletion of exon 4 disrupts the enzymatic domain of CRLS1 and results in out-of-frame splicing and premature stop codons. (J:266083)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count