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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tssk3em1Osb
endonuclease-mediated mutation 1, Research Institute for Microbial Diseases, Osaka University
MGI:7495884
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tssk3em1Osb/Tssk3em1Osb involves: 129S5/SvEvBrd * C57BL/6 * C57BL/6J * DBA/2 MGI:7506935


Genotype
MGI:7506935
hm1
Allelic
Composition
Tssk3em1Osb/Tssk3em1Osb
Genetic
Background
involves: 129S5/SvEvBrd * C57BL/6 * C57BL/6J * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tssk3em1Osb mutation (0 available); any Tssk3 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• testes show significant vacuolization of male germ cells
• defects in spermiogenesis and spermiation result in degeneration and rapid reabsorption of elongating/elongated spermatids in testes
• phosphoproteomics analysis of purified testicular germ cells showed significantly reduced phosphorylation of multiple infertility-related proteins, including GAPDHS, ACTL7A, ACTL9 and REEP6
• however, total protein levels remain unaffected
• all stages of the seminiferous epithelium cycle (I-XII) show some form of disorganization; most tubule cross-sections contain germ cells that appear to be either too early or too late for that stage
• however, both testis size and weight are normal
• ~28.7% of seminiferous tubule cross-sections exhibit vacuolization versus only ~1.5% in controls
• omitting stages VII and VIII, ~92% of all circular tubule cross-sections that contain vacuolization are at stages IV-VI and ~8% are at stage IX
• histological and ultrastructural analysis showed obvious defects in late spermatogenesis
• caudal epididymal sperm count is nearly ablated relative to that in heterozygous control males
• epididymis histology revealed only a few sperm present in the lumen
• cauda epididymal sperm appear morphologically abnormal
• all of the few spermatozoa retrieved from the epididymis exhibit thin sperm midpieces
• all of the few spermatozoa retrieved from the epididymis exhibit amorphous head morphology
• at steps 14 and 15, spermatids show unstructured acrosome morphology and degradation
• acrosomes are detached from the sperm nuclei
• at steps 14 and 15, spermatids show unstructured manchette morphology and degradation
• step 14-15 spermatids exhibit excess cytoplasm around normal-shaped nuclei
• early elongating spermatids that are typical of stage IX are instead observed at XII
• elongating spermatids that should have been fully developed at stage I appear underdeveloped
• elongated spermatids do not line the lumen at stage VII; stages VII and VIII are difficult to ascertain through standard staging criteria
• elongated spermatids fail to proceed normally along the spermiation pathway, resulting in a higher distribution of stages I-VI
• however, tubules progress to stage IX as irregularly shaped round spermatids can be found
• elongated spermatids that should have undergone spermiation at stage VIII are frequently observed at later stages IX-XI, with unreleased fully elongated spermatids still embedded in the epithelium
• male mice fail to sire pups when mated with wild-type females for >4 months, indicating complete male sterility

cellular
• testes show significant vacuolization of male germ cells
• defects in spermiogenesis and spermiation result in degeneration and rapid reabsorption of elongating/elongated spermatids in testes
• caudal epididymal sperm count is nearly ablated relative to that in heterozygous control males
• epididymis histology revealed only a few sperm present in the lumen
• cauda epididymal sperm appear morphologically abnormal
• all of the few spermatozoa retrieved from the epididymis exhibit thin sperm midpieces
• all of the few spermatozoa retrieved from the epididymis exhibit amorphous head morphology
• at steps 14 and 15, spermatids show unstructured acrosome morphology and degradation
• acrosomes are detached from the sperm nuclei
• at steps 14 and 15, spermatids show unstructured manchette morphology and degradation
• phosphoproteomics analysis of purified testicular germ cells showed significantly reduced phosphorylation of multiple infertility-related proteins, including GAPDHS, ACTL7A, ACTL9 and REEP6
• however, total protein levels remain unaffected

endocrine/exocrine glands
• all stages of the seminiferous epithelium cycle (I-XII) show some form of disorganization; most tubule cross-sections contain germ cells that appear to be either too early or too late for that stage
• however, both testis size and weight are normal
• ~28.7% of seminiferous tubule cross-sections exhibit vacuolization versus only ~1.5% in controls
• omitting stages VII and VIII, ~92% of all circular tubule cross-sections that contain vacuolization are at stages IV-VI and ~8% are at stage IX





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory