Primary Identifier | MGI:2687329 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 384619 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables dynein complex binding activity and identical protein binding activity. Involved in cytoskeleton organization; spindle localization; and telomere localization. Acts upstream of or within several processes, including double-strand break repair via homologous recombination; homologous chromosome segregation; and spermatogenesis. Located in chromosome; meiotic spindle pole; and nuclear outer membrane. Part of meiotic nuclear membrane microtubule tethering complex. Is expressed in ovary; primary spermatocyte; spermatocyte; and testis. Human ortholog(s) of this gene implicated in primary ovarian insufficiency and spermatogenic failure 88. Orthologous to human KASH5 (KASH domain containing 5). PHENOTYPE: Homozygous null mice are infertile. Females have small ovaries and lack ovarian follicles. Males exhibit small testes and seminiferous tubules, lack of mature sperm, increased testis apoptosis, and meiotic arrest along with limited homologous chromosome pairing and unresolved double-strand breaks. [provided by MGI curators] |