Inpp5d^el20

A T to C transition was found at nucleotide position 2099 (Genbank NM_010566) in ENU mutant mice. This should cause an isoleucine to threonine change at amino acid residue 641. An in-vitro 5'-phosphatase assay demonstrated reduced enzyme activity as compared to un-mutated controls. Protein levels were reduced in Western blots as were mRNA levels by qRT-PCR. (J:173266)