reproductive system
• at 20 weeks of age, sperm motility is significantly reduced (6.9% +/-4.4% compared to 59.3% +/-7.5% in control sperm)
• most motile sperm present display only sluggish movement
|
• defects in spermatogenesis are noted as early as step 2-3 spermatids, when fragmentation of acrosomal caps is already observed
|
• an abnormal arrangement of mitochondria in the mitochondrial sheath is observed
|
• some mutant epididymidal spermatozoa have their tails coiled around their nuclei; also observed in mature testicular spermatids
|
• early round spermatids exhibit fragmentation of the acrosomal cap and abnormal large vesicles caused by defective fusion of the Golgi-derived transport vesicles to the acrosome
• elongated spermatids and epididymal spermatozoa display prominent acrosome vacuolization, loss of adhesion to the nucleus, and total acrosome loss
|
• all mutant epididymidal spermatozoa exhibit a round or ovoid head shape; also observed in mature testicular spermatids
|
• in some cases, a complete loss of acrosomes is observed
|
• loss of adhesion to the nucleus is often observed
|
• all elongated spermatids and epididymal spermatozoa display malformed nuclei with a round or ovoid morphology
• occasional vacuolization or invagination give the nucleus a crescent-shaped structure
|
• male homozygotes are sterile
|
• intracytoplasmic sperm injection (ICSI) of abnormal mutant sperm into oocytes results in cleavage into blastocysts only when injected oocytes are stimulated electrically 30 min after ICSI
|
cellular
• an abnormal arrangement of mitochondria in the mitochondrial sheath is observed
|
• some mutant epididymidal spermatozoa have their tails coiled around their nuclei; also observed in mature testicular spermatids
|
• early round spermatids exhibit fragmentation of the acrosomal cap and abnormal large vesicles caused by defective fusion of the Golgi-derived transport vesicles to the acrosome
• elongated spermatids and epididymal spermatozoa display prominent acrosome vacuolization, loss of adhesion to the nucleus, and total acrosome loss
|
• all mutant epididymidal spermatozoa exhibit a round or ovoid head shape; also observed in mature testicular spermatids
|
• in some cases, a complete loss of acrosomes is observed
|
• loss of adhesion to the nucleus is often observed
|
• all elongated spermatids and epididymal spermatozoa display malformed nuclei with a round or ovoid morphology
• occasional vacuolization or invagination give the nucleus a crescent-shaped structure
|
• at 20 weeks of age, sperm motility is significantly reduced (6.9% +/-4.4% compared to 59.3% +/-7.5% in control sperm)
• most motile sperm present display only sluggish movement
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
azoospermia | DOID:14227 | J:78599 |