All Phenotypes Golga2<tm1.2Baos> MGI Mouse

premature death ( J:273740 )

• only 50% of mice survive to adulthood

• at 2 months of age, body weight is reduced by ~50% relative to control weight

abnormal sperm mitochondrial sheath morphology ( J:273740 )

• Mitotracker-positive mitochondria are abnormally found in the sperm head surrounding the deformed nucleus instead of the flagellar midpiece, suggesting improper mitochondrial sheath assembly

absent sperm mitochondrial sheath ( J:273740 )

• Mitotracker staining revealed complete absence of the mitochondrial sheath in the midpiece of sperm tails

oligozoospermia ( J:273740 )

• total number of caudal epididymal sperm is reduced by ~60% relative to controls

abnormal sperm head morphology ( J:273740 )

• Mitotracker-positive mitochondria are abnormally found in the sperm head surrounding the deformed nucleus

abnormal acrosome assembly ( J:273740 )

• although a small electron dense acrosome matrix and a very thin layer of acrosome sac are identified in early stage spermatids, the size of Golgi-derived vesicles does not expand or increase in size and no acrosome structure is detected at later stages

• co-localization of the adaptor protein complex AP1 and trans-Golgi network (TGN) protein TGN46 is disrupted, suggesting that acrosome malformation is likely due to a defect in the sorting and coating of Golgi-derived pro-acrosomic vesicles

abnormal proacrosomal vesicle fusion ( J:273740 )

• numerous small Golgi-derived pro-acrosomic vesicles accumulate in the medulla region between the Golgi apparatus and nucleus but fail to move to the concave region of the spermatid nucleus and fuse into a single large acrosome vesicle

globozoospermia ( J:273740 )

• at 2 months of age, all sperm heads in the testes and cauda epididymides are round or ovoid shaped

absent acrosome ( J:273740 )

• acrosome is absent, as shown by the complete absence of Afaf signal in the testes and of acrosome-specific protein ZP3R (aka SP56) in sperm

abnormal sperm nucleus morphology ( J:273740 )

• sperm nucleus is deformed; the nucleus fails to elongate and remains round and less condensed in the maturation phase

abnormal spermatid morphology ( J:273740 )

• at 2 months of age, the spermatid nucleus is round and less condensed

• mitochondria are aggregated and wrapped around the spermatid nucleus

• Golgi apparatus is fragmented into several small pieces and numerous small Golgi-derived pro-acrosomic vesicles are observed in the medulla region in round spermatids

• actin bundles are disorganized and identified at only one side of the nucleus in most spermatids

• spermatid microtubules are also disorganized and less condensed

decreased sperm progressive motility ( J:273740 )

• no progressive sperm are detected

immotile sperm ( J:273740 )

• only about 30% of epididymal sperm are motile versus 80% in control males

small testis ( J:273740 )

• testis size is reduced at 2 months of age

decreased testis weight ( J:273740 )

• at 2 months of age, testis weight is reduced by ~50% relative to control testis

• however, testes weight-to-body weight ratio is not significantly altered

abnormal spermiogenesis ( J:273740 )

• defects in spermiogenesis are observed at 2 months of age

• however, seminiferous tubule histology is grossly normal

male infertility ( J:273740 )

abnormal sperm mitochondrial sheath morphology ( J:273740 )

• Mitotracker-positive mitochondria are abnormally found in the sperm head surrounding the deformed nucleus instead of the flagellar midpiece, suggesting improper mitochondrial sheath assembly

absent sperm mitochondrial sheath ( J:273740 )

• Mitotracker staining revealed complete absence of the mitochondrial sheath in the midpiece of sperm tails

oligozoospermia ( J:273740 )

• total number of caudal epididymal sperm is reduced by ~60% relative to controls

abnormal sperm head morphology ( J:273740 )

• Mitotracker-positive mitochondria are abnormally found in the sperm head surrounding the deformed nucleus

abnormal acrosome assembly ( J:273740 )

• although a small electron dense acrosome matrix and a very thin layer of acrosome sac are identified in early stage spermatids, the size of Golgi-derived vesicles does not expand or increase in size and no acrosome structure is detected at later stages

• co-localization of the adaptor protein complex AP1 and trans-Golgi network (TGN) protein TGN46 is disrupted, suggesting that acrosome malformation is likely due to a defect in the sorting and coating of Golgi-derived pro-acrosomic vesicles

abnormal proacrosomal vesicle fusion ( J:273740 )

• numerous small Golgi-derived pro-acrosomic vesicles accumulate in the medulla region between the Golgi apparatus and nucleus but fail to move to the concave region of the spermatid nucleus and fuse into a single large acrosome vesicle

globozoospermia ( J:273740 )

• at 2 months of age, all sperm heads in the testes and cauda epididymides are round or ovoid shaped

absent acrosome ( J:273740 )

• acrosome is absent, as shown by the complete absence of Afaf signal in the testes and of acrosome-specific protein ZP3R (aka SP56) in sperm

abnormal sperm nucleus morphology ( J:273740 )

• sperm nucleus is deformed; the nucleus fails to elongate and remains round and less condensed in the maturation phase

abnormal spermatid morphology ( J:273740 )

• at 2 months of age, the spermatid nucleus is round and less condensed

• mitochondria are aggregated and wrapped around the spermatid nucleus

• Golgi apparatus is fragmented into several small pieces and numerous small Golgi-derived pro-acrosomic vesicles are observed in the medulla region in round spermatids

• actin bundles are disorganized and identified at only one side of the nucleus in most spermatids

• spermatid microtubules are also disorganized and less condensed

abnormal Golgi apparatus morphology ( J:273740 )

• unlike in control spermatids where a single Golgi apparatus and several large Golgi-derived vesicles are observed, the Golgi apparatus is fragmented into several small pieces and numerous small Golgi-derived pro-acrosomic vesicles are identified

abnormal cell cytoskeleton morphology ( J:273740 )

• spermatids display a disorganized cytoskeleton

abnormal actin cytoskeleton morphology ( J:273740 )

• actin bundles are disorganized and identified at only one side of the nucleus in most spermatids, unlike in control spermatids where actin bundles are symmetrically localized at both sides of the nucleus

abnormal microtubule cytoskeleton morphology ( J:273740 )

• spermatid microtubules are disorganized and less condensed, unlike in control spermatids where microtubules are symmetrically assembled

decreased sperm progressive motility ( J:273740 )

• no progressive sperm are detected

immotile sperm ( J:273740 )

• only about 30% of epididymal sperm are motile versus 80% in control males

small testis ( J:273740 )

• testis size is reduced at 2 months of age

decreased testis weight ( J:273740 )

• at 2 months of age, testis weight is reduced by ~50% relative to control testis

• however, testes weight-to-body weight ratio is not significantly altered

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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