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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Spag4tm1(KOMP)Mbp
targeted mutation 1, Mouse Biology Program, UC Davis
MGI:4456603
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Spag4tm1(KOMP)Mbp/Spag4tm1(KOMP)Mbp involves: C57BL/6J * C57BL/6N MGI:6874588
hm2
Spag4tm1(KOMP)Mbp/Spag4tm1(KOMP)Mbp involves: C57BL/6N MGI:5796396


Genotype
MGI:6874588
hm1
Allelic
Composition
Spag4tm1(KOMP)Mbp/Spag4tm1(KOMP)Mbp
Genetic
Background
involves: C57BL/6J * C57BL/6N
Cell Lines DEPD00501_2_E02
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spag4tm1(KOMP)Mbp mutation (1 available); any Spag4 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• female mice are fertile
• outer dense fiber aberrations are observed in the principal piece
• although formation of the head-to-tail coupling apparatus (HTCA) is normal, condensed spermatids and epididymal spermatozoa exhibit a diminished attachment site with obvious detachment of the lateral parts of the basal plate from the nuclear membrane, suggesting that tightening of the sperm head-to-tail anchorage is affected
• principal piece region shows numerical and structural aberrations with disorganized or missing microtubule doublets and their accompanying outer dense fibers
• in contrast, midpiece formation is normal with a well-organized mitochondrial sheath, axoneme and outer dense fibers
• epididymal spermatozoa are rarely found but, if present, are misshapen
• as spermiogenesis proceeds, spermatids exhibit a severely malformed acrosome
• epididymal sperm exhibit a characteristic malformed, globular head
• spermatid nuclei do not properly elongate and remain spherical with a malformed acrosome
• although nuclear condensation is observed, reshaping and final nuclear compaction do not occur
• round spermatids appear normal with a properly developed acrosome; however, as spermiogenesis proceeds spermatids lack a distinct manchette and show severe malformation of the nucleus and the acrosome
• elongated spermatids are rarely found in the testis and epididymis
• manchettes are malformed and frequently detached indicating impaired linkage of the manchette to the spermatid nucleus
• however, manchette microtubules are acetylated indicating the presence of stable microtubules and a sperm tail develops at the posterior pole of the nucleus similar to wild-type cells
• spermatid manchette is frequently detached from the nuclear envelope
• although spermatogenesis appears to progress to the round spermatid stage, elongated spermatids are rarely found in the seminiferous tubules and epididymis
• males are completely infertile

cellular
• outer dense fiber aberrations are observed in the principal piece
• although formation of the head-to-tail coupling apparatus (HTCA) is normal, condensed spermatids and epididymal spermatozoa exhibit a diminished attachment site with obvious detachment of the lateral parts of the basal plate from the nuclear membrane, suggesting that tightening of the sperm head-to-tail anchorage is affected
• principal piece region shows numerical and structural aberrations with disorganized or missing microtubule doublets and their accompanying outer dense fibers
• in contrast, midpiece formation is normal with a well-organized mitochondrial sheath, axoneme and outer dense fibers
• epididymal spermatozoa are rarely found but, if present, are misshapen
• as spermiogenesis proceeds, spermatids exhibit a severely malformed acrosome
• epididymal sperm exhibit a characteristic malformed, globular head
• spermatid nuclei do not properly elongate and remain spherical with a malformed acrosome
• although nuclear condensation is observed, reshaping and final nuclear compaction do not occur
• round spermatids appear normal with a properly developed acrosome; however, as spermiogenesis proceeds spermatids lack a distinct manchette and show severe malformation of the nucleus and the acrosome
• elongated spermatids are rarely found in the testis and epididymis
• manchettes are malformed and frequently detached indicating impaired linkage of the manchette to the spermatid nucleus
• however, manchette microtubules are acetylated indicating the presence of stable microtubules and a sperm tail develops at the posterior pole of the nucleus similar to wild-type cells
• spermatid manchette is frequently detached from the nuclear envelope




Genotype
MGI:5796396
hm2
Allelic
Composition
Spag4tm1(KOMP)Mbp/Spag4tm1(KOMP)Mbp
Genetic
Background
involves: C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spag4tm1(KOMP)Mbp mutation (1 available); any Spag4 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• male homozygotes display normal testis size and weight relative to wild-type controls
• in several cases, sperm flagella show a tendency to coil around the nuclei
• elongating spermatids show severe defects in sperm head formation; sperm heads appear completely misshapen rather than elongated
• epididymal spermatozoa are non-functional and characterized by malformed roundish nuclei
• spermatozoa occasionally are encircled by their tail or sometimes are found in large constrictions, indicating cell degeneration
• occasionally, acrosomes are partially detached from the nuclear envelope during final maturation of spermatozoa
• most differentiating spermatids show altered localization of nuclear envelope (NE) components, disorganization of the microtubule manchette, NE lobulation, and severe deformation of the spermatid nuclei
• however, chromatin compaction and positioning of the spermatid centriole/basal body in relation to the posterior NE are normal
• at 15 weeks of age, elongated spermatids are absent in seminiferous tubules; instead, numerous abnormal spermatids with round nuclei are observed
• although early round spermatids appear normal, starting at stage 8 to 9 of the spermatogenic cycle tubules contain a huge number of aberrant roundish spermatids, indicating impaired sperm elongation and shaping
• spermatids lack the rod-like filaments normally found between the NE and the closely associated microtubule manchette
• the manchette, a bundle-like structure normally connected to the posterior NE, is severely disorganized or even completely absent
• microtubules appear loosely assembled and disorganized or, in most cases, dissociated from the NE, indicating impaired assembly and anchorage of the manchette
• in some cases, the manchette is completely absent
• at 15 weeks of age, epididymides lack regular spermatozoa and contain numerous aberrant germ cells with round nuclei in the lumen
• male homozygotes are completely infertile

cellular
• in several cases, sperm flagella show a tendency to coil around the nuclei
• elongating spermatids show severe defects in sperm head formation; sperm heads appear completely misshapen rather than elongated
• epididymal spermatozoa are non-functional and characterized by malformed roundish nuclei
• spermatozoa occasionally are encircled by their tail or sometimes are found in large constrictions, indicating cell degeneration
• occasionally, acrosomes are partially detached from the nuclear envelope during final maturation of spermatozoa
• most differentiating spermatids show altered localization of nuclear envelope (NE) components, disorganization of the microtubule manchette, NE lobulation, and severe deformation of the spermatid nuclei
• however, chromatin compaction and positioning of the spermatid centriole/basal body in relation to the posterior NE are normal
• at 15 weeks of age, elongated spermatids are absent in seminiferous tubules; instead, numerous abnormal spermatids with round nuclei are observed
• although early round spermatids appear normal, starting at stage 8 to 9 of the spermatogenic cycle tubules contain a huge number of aberrant roundish spermatids, indicating impaired sperm elongation and shaping
• spermatids lack the rod-like filaments normally found between the NE and the closely associated microtubule manchette
• the manchette, a bundle-like structure normally connected to the posterior NE, is severely disorganized or even completely absent
• microtubules appear loosely assembled and disorganized or, in most cases, dissociated from the NE, indicating impaired assembly and anchorage of the manchette
• in some cases, the manchette is completely absent





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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory