Katnal1^1H

A single point mutation (T to G) is located in exon 7. This point mtation results in a leucine to valine substitution at residue 286, within a conserved ATPase domain and creates a novel HpyAV restriction-enzyme recognition site. In vitro analysis indicates that this is a loss of function allele. In Sertoli cells from homozygous mice protein is restricted to the basal compartment rather than being throughout the basal and adluminal compartments. (J:185195)