Phenotypes for Csnk2a2 MGI:2451166 MGI Mouse

abnormal spermatogonia morphology ( J:85522 )

• at P28 (first spermatogenesis wave), some spermatogonia display a swollen clear cytoplasm

• the frequency of spermatogonia with highly condensed nuclei is increased

increased male germ cell apoptosis ( J:57312 )

• mutant testes exhibit increased numbers of apoptotic germ cells, as well as a variety of apoptotic cell types including spermatocytes and round spermatids, as revealed by TUNEL staining

abnormal sperm motility ( J:57312 )

• male homozygotes exhibit occasional kinked or bent sperm flagella, resulting in uncoordinated sperm motility

abnormal spermatogenesis ( J:85522 )

• extensive germ cell degenerative processes are detected at all stages of spermatogenesis, including the first spermatogenesis wave

• nuclear envelope protrusions with loss of nuclear pores, swelling of the outer membrane, and disruption of the inner membrane are observed in cells ranging from spermatogonia to early spermatids

oligozoospermia ( J:57312 , J:85522 )

• male homozygotes display a >70% reduction in the number of epididymal spermatozoa relative to controls (J:57312)

• oligospermia is partly attributed to failure of spermatozoa release and Sertoli cell phagocytosis (J:57312)

• only a small number of spermatozoa are found in the lumen of the epididymis (J:85522)

teratozoospermia ( J:57312 )

• all surviving spermatozoa appear abnormal, as are spermatozoa released from the epididymis

coiled sperm flagellum ( J:85522 )

• epididymal spermatozoa frequently display a coiled flagellum

kinked sperm flagellum ( J:57312 , J:85522 )

• mutant sperm flagella are occasionally bent or kinked (J:57312)

• epididymal spermatozoa frequently display a bent flagellum (J:85522)

abnormal sperm head morphology ( J:57312 )

• starting at late step 9, elongating spermatids display deformation of the anterior sperm head

abnormal acrosome morphology ( J:85522 )

• some spermatids display a vacuolized acrosome

globozoospermia ( J:57312 )

• elongating spermatids undergo normal chromatin condensation but display breaks or defects in the nuclear cap

• by the time of release into the epididymis, all surviving mutant spermatozoa fail to assume a hooked shape typical of wild-type spermatozoa, and appear round or ovoid

detached acrosome ( J:57312 , J:85522 )

• as germ cells mature, many acrosomes become detached from the sperm nucleus and appear discontinuous in cross section (J:57312)

• in many mature spermatids, a large space separates the acrosome from the nucleus (J:85522)

abnormal sperm nucleus morphology ( J:57312 )

• in step 9, many elongating spermatids develop nuclei that are deformed and indented with the acrosome or sometimes with projections of the surrounding Sertoli cells

• by the time of release into the epididymis, some spontaneous decondensation of nuclear chromatin, similar to that induced by chemical agents, is observed

abnormal spermatid morphology ( J:57312 , J:85522 )

• starting at late step 9, elongating spermatids exhibit abnormalities of the acrosome-covered (anterior) head while posterior structures remain normal (J:57312)

• most post-meiotic round spermatids are deleted in the seminiferous tubule lumen (J:85522)

• discarded round spermatids exhibit a clear space alongside the nucleus (J:85522)

• in adult testes, many spermatids show large clear areas in the nucleus and/or the cytoplasm; fewer spermatids show these alterations at the first wave of spermatogenesis (J:85522)

• spermatids that are not eliminated retain nuclear envelope defects (J:85522)

• DNA-specific fluorescent staining of round spermatids revealed a large chromatin-free nuclear region near the chromocenter, while a layer of condensed chromatin accumulates on the inner surface of the nuclear envelope, except in a small region facing the nuclear cavitation (J:85522)

abnormal spermatocyte morphology ( J:85522 )

• degenerating metaphase spermatocytes I are frequently present

• at P28, spermatocytes I contain large juxtanuclear clear areas

abnormal spermiogenesis ( J:85522 )

• mature spermatids that escape sloughing display poorly elongated nucleus, flagellar angulation, and incomplete cytoplasm elimination

male infertility ( J:57312 )

• male, but not female, homozygotes are infertile