| 227331 |
Q6Y7W8 |
GGYF2_MOUSE |
GRB10-interacting GYF protein 2 (PERQ amino acid-rich with GYF domain-containing protein 2) (Trinucleotide repeat-containing gene 15 protein) |
DISRUPTION PHENOTYPE |
Mice undergo normal embryonic development, but fail to feed and die within the first 2 postnatal days. Heterozygous mice survive to adulthood with no evident metabolic or growth defects. At 12-15 months of age, heterozygous mice show motor dysfunction associated with histopathologic evidence of neurodegeneration and rare intracytoplasmic Lewy body-like inclusions in spinal anterior horn motor neurons. {ECO:0000269|PubMed:19744960}. |