reproductive system
• adult ovaries lack oocytes
|
• adult seminiferous tubules show absence of spermatids
|
• adult seminiferous tubules show absence of some types of spermatocytes, unlike in wild-type controls
• at P15, tubules are devoid of pachytene spermatocytes and instead contain germ cells with condensed heteropycnotic nuclei
|
• only spermatogonia and some spermatocytes, but no spermatids, are visible in adult testes, unlike in wild-type controls
• absence of spermatocytes beyond the zygotene stage as well as post-meiotic germ cells is noted at P21
|
azoospermia
(
J:249350
)
• adult seminiferous tubules show absence of spermatozoa
|
• arrest of germ cell development prior to pachynema during prophase I of meiosis
• impaired synapsis and double-strand DNA break (DSB) repair in spermatocytes and oocytes, indicating halted meiotic progression in both sexes
• MEIOB (meiosis specific with OB domains) foci are visually undetectable in spermatocytes and oocytes and the level of MEIOB protein is reduced by ~50% in whole testis extracts
• in contrast, RPA1 (replication protein A1) foci are present along meiotic chromosomes in cells of both sexes
|
• a complete array of fully synapsed homologs is never observed in meiocytes, unlike in wild-type pachytene spermatocytes and oocytes
|
• meiotic arrest in female gonads
|
• formation of the synaptonemal complex (SC) is severely impaired; completely individualized SCs are never observed in spermatocytes or oocytes, suggesting that germ cells do not progress to pachynema
|
• only degenerated follicles are present in adult ovaries, unlike in wild-type controls
|
small ovary
(
J:249350
)
• adult ovaries are significantly smaller than those of wild-type controls
|
small testis
(
J:249350
)
• adult testes are significantly smaller than those of wild-type controls
|
• average paired testis weights of adult males is 24.6% of wild-type controls
|
• at P15, seminiferous tubules exhibit cellular depletion typical of stage IV arrest
|
• loss of male germ cells is caused by meiotic arrest prior to the mid-pachytene stage
• absence of a gamma-H2AX-positive domain, indicative of the XY body in spermatocytes, indicates that germ cells do not reach pachynema
|
infertility
(
J:249350
)
• both males and females are sterile
• however, mating behavior is normal
|
cellular
• adult ovaries lack oocytes
|
• adult seminiferous tubules show absence of spermatids
|
• adult seminiferous tubules show absence of some types of spermatocytes, unlike in wild-type controls
• at P15, tubules are devoid of pachytene spermatocytes and instead contain germ cells with condensed heteropycnotic nuclei
|
• only spermatogonia and some spermatocytes, but no spermatids, are visible in adult testes, unlike in wild-type controls
• absence of spermatocytes beyond the zygotene stage as well as post-meiotic germ cells is noted at P21
|
azoospermia
(
J:249350
)
• adult seminiferous tubules show absence of spermatozoa
|
• arrest of germ cell development prior to pachynema during prophase I of meiosis
• impaired synapsis and double-strand DNA break (DSB) repair in spermatocytes and oocytes, indicating halted meiotic progression in both sexes
• MEIOB (meiosis specific with OB domains) foci are visually undetectable in spermatocytes and oocytes and the level of MEIOB protein is reduced by ~50% in whole testis extracts
• in contrast, RPA1 (replication protein A1) foci are present along meiotic chromosomes in cells of both sexes
|
• a complete array of fully synapsed homologs is never observed in meiocytes, unlike in wild-type pachytene spermatocytes and oocytes
|
• meiotic arrest in female gonads
|
• loss of male germ cells is caused by meiotic arrest prior to the mid-pachytene stage
• absence of a gamma-H2AX-positive domain, indicative of the XY body in spermatocytes, indicates that germ cells do not reach pachynema
|
• formation of the synaptonemal complex (SC) is severely impaired; completely individualized SCs are never observed in spermatocytes or oocytes, suggesting that germ cells do not progress to pachynema
|
• DNA repair is severely impaired in spermatocytes and oocytes; DSBs induced at the onset of meiosis are not repaired before meiotic arrest, as indicated by prolonged detection of gamma-H2AX
|
endocrine/exocrine glands
• only degenerated follicles are present in adult ovaries, unlike in wild-type controls
|
small ovary
(
J:249350
)
• adult ovaries are significantly smaller than those of wild-type controls
|
small testis
(
J:249350
)
• adult testes are significantly smaller than those of wild-type controls
|
• average paired testis weights of adult males is 24.6% of wild-type controls
|
homeostasis/metabolism
• DNA repair is severely impaired in spermatocytes and oocytes; DSBs induced at the onset of meiosis are not repaired before meiotic arrest, as indicated by prolonged detection of gamma-H2AX
|