reproductive system
N |
• females exhibit normal fertility
|
• spermatids display a defect in flagella assembly
|
• although microtubular manchettes are present in elongating spermatids, no microtubule axonemes are observed from any of the HTCAs
|
• mice display defects in the head-tail coupling apparatus (HTCA, aka connecting piece)
• spermatids often exhibit multiple HTCAs or dislocation of the HTCA from its native implantation site
• numerous vesicles are present at the HTCA developmental sites, some of which contain dense material of unknown nature
• no assembly of axonemal microtubules emerge from any of the HTCAs, unlike in wild-type spermatids
|
• sperm lack an attached flagellum
• HTCAs do not appear to be initiate flagellogenesis
|
azoospermia
(
J:231668
)
• mice are devoid of sperm in the epididymal lumen
|
• spermatids exhibit abnormal head shaping
|
• spermatids show aberrant in-folding of the acrosome-acroplaxome complex resulting in abnormal nuclear shaping
• mature spermatids show abortive acrosome development
|
• spermatids often display detached and degraded acrosomes
|
• spermatids exhibit abnormal nuclear shaping
• in mature degenerating spermatids, the nuclear envelope surrounding the condensed nucleus begins to rupture along with an abortive and detached acrosome-acroplaxome complex
• mitochondria are mislocalized and abnormally clustered around the nucleus
|
• mature spermatids exhibit abnormally shaped heads, lack flagella tails, and appear to degenerate within the testis
|
• at 8 weeks of age, mice exhibit both an absence of a lumen and spermatid flagella
|
• mice exhibit structural defects in spermiogenesis during formation of the flagellum
|
• mice show failure of spermiation and degradation of maturing spermatids within the testis
|
• at 8 weeks of age, mice exhibit a complete lack of sperm in the epididymal lumen, unlike wild-type controls
• only cellular debris is observed
|
• males are completely sterile
• however, mating behavior is normal, as determined by the presence of copulatory plugs
|
behavior/neurological
N |
• although Ccdc42 is expressed in Purkinje cells of the wild-type cerebellum and other brain regions, mice do not exhibit any obvious developmental or behavioral deficits and show normal motor coordination in a rotarod test
|
cellular
• spermatids display a defect in flagella assembly
|
• although microtubular manchettes are present in elongating spermatids, no microtubule axonemes are observed from any of the HTCAs
|
• mice display defects in the head-tail coupling apparatus (HTCA, aka connecting piece)
• spermatids often exhibit multiple HTCAs or dislocation of the HTCA from its native implantation site
• numerous vesicles are present at the HTCA developmental sites, some of which contain dense material of unknown nature
• no assembly of axonemal microtubules emerge from any of the HTCAs, unlike in wild-type spermatids
|
• sperm lack an attached flagellum
• HTCAs do not appear to be initiate flagellogenesis
|
azoospermia
(
J:231668
)
• mice are devoid of sperm in the epididymal lumen
|
• spermatids exhibit abnormal head shaping
|
• spermatids show aberrant in-folding of the acrosome-acroplaxome complex resulting in abnormal nuclear shaping
• mature spermatids show abortive acrosome development
|
• spermatids often display detached and degraded acrosomes
|
• spermatids exhibit abnormal nuclear shaping
• in mature degenerating spermatids, the nuclear envelope surrounding the condensed nucleus begins to rupture along with an abortive and detached acrosome-acroplaxome complex
• mitochondria are mislocalized and abnormally clustered around the nucleus
|
• mature spermatids exhibit abnormally shaped heads, lack flagella tails, and appear to degenerate within the testis
|
endocrine/exocrine glands
• at 8 weeks of age, mice exhibit both an absence of a lumen and spermatid flagella
|