reproductive system
• at P28 (first spermatogenesis wave), some spermatogonia display a swollen clear cytoplasm
• the frequency of spermatogonia with highly condensed nuclei is increased
|
• 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
|
• male homozygotes exhibit occasional kinked or bent sperm flagella, resulting in uncoordinated sperm motility
|
• 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
|
• 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)
|
• all surviving spermatozoa appear abnormal, as are spermatozoa released from the epididymis
|
• epididymal spermatozoa frequently display a coiled flagellum
|
• mutant sperm flagella are occasionally bent or kinked
(J:57312)
• epididymal spermatozoa frequently display a bent flagellum
(J:85522)
|
• starting at late step 9, elongating spermatids display deformation of the anterior sperm head
|
• some spermatids display a vacuolized acrosome
|
• 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
|
• 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)
|
• 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
|
• 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)
|
• at P28, spermatocytes I contain large juxtanuclear clear areas
• degenerating metaphase spermatocytes I are frequently present
|
• mature spermatids that escape sloughing display poorly elongated nucleus, flagellar angulation, and incomplete cytoplasm elimination
|
• male, but not female, homozygotes are infertile
|
cellular
• 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)
|
• all surviving spermatozoa appear abnormal, as are spermatozoa released from the epididymis
|
• epididymal spermatozoa frequently display a coiled flagellum
|
• mutant sperm flagella are occasionally bent or kinked
(J:57312)
• epididymal spermatozoa frequently display a bent flagellum
(J:85522)
|
• starting at late step 9, elongating spermatids display deformation of the anterior sperm head
|
• some spermatids display a vacuolized acrosome
|
• 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
|
• 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)
|
• 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
|
• 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)
|
• at P28, spermatocytes I contain large juxtanuclear clear areas
• degenerating metaphase spermatocytes I are frequently present
|
• at P28 (first spermatogenesis wave), some spermatogonia display a swollen clear cytoplasm
• the frequency of spermatogonia with highly condensed nuclei is increased
|
• 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
|
• male homozygotes exhibit occasional kinked or bent sperm flagella, resulting in uncoordinated sperm motility
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
male infertility | DOID:12336 | J:57312 |