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Literature summary for 2.7.7.12 extracted from

  • Chen, W.; Caston, R.; Balakrishnan, B.; Siddiqi, A.; Parmar, K.; Tang, M.; Feng, M.; Lai, K.
    Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency (2017), J. Inherit. Metab. Dis., 40, 131-137 .
    View publication on PubMedView publication on EuropePMC

Organism

Organism UniProt Comment Textmining
Mus musculus Q03249
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General Information

General Information Comment Organism
malfunction a galactose-1 phosphate uridylyltransferase (GALT)-deficient mouse model reveals reduced fertility and growth restriction. Mutant mice experience cerebellar hypoplasia, which may result from the down-regulation of the PI3K/Akt signaling pathway Mus musculus