Heterozygous (Pcmt+/-) mice are viable and fertile. Homozygous (Pcmt-/-) mice have significantly increased isoaspartyl residues in intracellular proteins (deficits in the repair of isoaspartyl protein damage), with alterations in the insulin-like growth factor-I pathway and insulin receptor pathway in the brain. Homozygous mice exhibit reduced overall body size, progressive brain enlargement, increased neuronal cell proliferation, and death at approximately 45 days of age from tonic-clonic seizures. The brain enlargement is attributed to aberrantly increased insulin signaling in neuronal tissues. Homozygous Pcmt1-deficiency also increases the ratio of S-adenosylmethionine to S-adenosylhomocysteine by ~2.3-fold in brain tissue at 40 days of age, which likely affects the activity of many of the other cellular methyltransferases. Pcmt-/- mice also have a mild impairment in glucose tolerance (higher peak levels of blood glucose), but no significant differences in plasma insulin levels, during glucose tolerance tests.

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PCMT1 is a protein repair methyltransferase that initiates the conversion of L-isoaspartyl residues to normal L-aspartyl residues. Homozygous deficiency of this isoaspartyl repair methyl-transferase may be useful in studying isoaspartyl accumulation in seizure disorders, cellular-damage induced neurogenesis, aging, the PI3K/Akt signal transduction pathway, the insulin signaling pathway and autophagy/protein turnover.

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