About   Help   FAQ
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





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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/19/2024
MGI 6.24
The Jackson Laboratory