Primary Identifier | MGI:2150302 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 114874 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable phospholipase activity. Acts upstream of or within sperm mitochondrion organization. Predicted to be active in cytoplasm. Is expressed in several structures, including cerebral cortex; foregut; ganglia; nose; and tooth. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 28. Orthologous to human DDHD1 (DDHD domain containing 1). PHENOTYPE: Mice homozygous for a null allele show reduced testis weight, oligozoospermia, teratozoospermia, and male subfertility. Sperm defects include a disorganized mitochondrial structure, an abnormal gap between the middle and principal pieces, and hairpin flagellum leading to impaired sperm motility. [provided by MGI curators] |