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Phenotypes Associated with This Genotype
Genotype
MGI:6885878
Allelic
Composition
Golga2tm1.2Baos/Golga2tm1.2Baos
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Golga2tm1.2Baos mutation (0 available); any Golga2 mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• only 50% of mice survive to adulthood

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

reproductive system
• Mitotracker-positive mitochondria are abnormally found in the sperm head surrounding the deformed nucleus instead of the flagellar midpiece, suggesting improper mitochondrial sheath assembly
• Mitotracker staining revealed complete absence of the mitochondrial sheath in the midpiece of sperm tails
• total number of caudal epididymal sperm is reduced by ~60% relative to controls
• Mitotracker-positive mitochondria are abnormally found in the sperm head surrounding the deformed nucleus
• 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
• 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
• at 2 months of age, all sperm heads in the testes and cauda epididymides are round or ovoid shaped
• 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
• sperm nucleus is deformed; the nucleus fails to elongate and remains round and less condensed in the maturation phase
• 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
• no progressive sperm are detected
• only about 30% of epididymal sperm are motile versus 80% in control males
• testis size is reduced at 2 months of age
• 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
• defects in spermiogenesis are observed at 2 months of age
• however, seminiferous tubule histology is grossly normal

cellular
• Mitotracker-positive mitochondria are abnormally found in the sperm head surrounding the deformed nucleus instead of the flagellar midpiece, suggesting improper mitochondrial sheath assembly
• Mitotracker staining revealed complete absence of the mitochondrial sheath in the midpiece of sperm tails
• total number of caudal epididymal sperm is reduced by ~60% relative to controls
• Mitotracker-positive mitochondria are abnormally found in the sperm head surrounding the deformed nucleus
• 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
• 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
• at 2 months of age, all sperm heads in the testes and cauda epididymides are round or ovoid shaped
• 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
• sperm nucleus is deformed; the nucleus fails to elongate and remains round and less condensed in the maturation phase
• 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
• 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
• spermatids display a disorganized cytoskeleton
• 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
• spermatid microtubules are disorganized and less condensed, unlike in control spermatids where microtubules are symmetrically assembled
• no progressive sperm are detected
• only about 30% of epididymal sperm are motile versus 80% in control males

endocrine/exocrine glands
• testis size is reduced at 2 months of age
• 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


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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last database update
06/12/2024
MGI 6.13
The Jackson Laboratory