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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Slc9a8tm1d(KOMP)Wtsi
targeted mutation 1d, Wellcome Trust Sanger Institute
MGI:5925354
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Slc9a8tm1d(KOMP)Wtsi/Slc9a8tm1d(KOMP)Wtsi involves: C57BL/6N MGI:6887367
cx2
Slc9a8tm1d(KOMP)Wtsi/Slc9a8tm1d(KOMP)Wtsi
Tg(CAG-RFP,Acr-EGFP)RBGS002Osb/0
involves: C57BL/6 * C57BL/6N * DBA/2 MGI:6887369


Genotype
MGI:6887367
hm1
Allelic
Composition
Slc9a8tm1d(KOMP)Wtsi/Slc9a8tm1d(KOMP)Wtsi
Genetic
Background
involves: C57BL/6N
Cell Lines EPD0033_5_A07
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc9a8tm1d(KOMP)Wtsi mutation (0 available); any Slc9a8 mutation (108 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• males exhibit no significant changes in testes weight-to-body weight ratio, seminiferous tubule diameter or sperm concentration in the caudae epididymides relative to control males
• mature spermatozoa show abnormal mitochondrial distribution: mitochondria are found in sperm heads instead of forming a sheath around the initial part of the sperm tail
• MitoTracker staining revealed loss of the mitochondrial sheath
• although the Golgi phase appears normal, many small PNA-positive vesicles are detected on the nuclear surface of spermatids in the cap phase
• acrosome-less spermatids fail to exhibit the typical elongated shape in the maturation phase, although nuclei are condensed
• defect in acrosome biogenesis is likely due to impaired fusion of Golgi-derived vesicles, whereas tethering of these vesicles to the nuclear envelope appears unaffected
• Golgi-derived vesicles accumulate in the region between the Golgi and the nucleus but fail to generate larger granules or acrosomal caps
• spermatozoa within seminiferous tubules or the cauda epididymis exhibit round heads
• mature spermatozoa isolated from the caudae epididymides lack acrosomes
• acrosome-less spermatozoa in the seminiferous tubules frequently exhibit irregularly shaped nuclei
• spermatozoa isolated from the caudae epididymides show a drastic reduction in motility
• male mice fail to produce progeny
• however, mating behavior is normal and vaginal plugs are observed in paired females

cellular
• mature spermatozoa show abnormal mitochondrial distribution: mitochondria are found in sperm heads instead of forming a sheath around the initial part of the sperm tail
• MitoTracker staining revealed loss of the mitochondrial sheath
• although the Golgi phase appears normal, many small PNA-positive vesicles are detected on the nuclear surface of spermatids in the cap phase
• acrosome-less spermatids fail to exhibit the typical elongated shape in the maturation phase, although nuclei are condensed
• defect in acrosome biogenesis is likely due to impaired fusion of Golgi-derived vesicles, whereas tethering of these vesicles to the nuclear envelope appears unaffected
• Golgi-derived vesicles accumulate in the region between the Golgi and the nucleus but fail to generate larger granules or acrosomal caps
• spermatozoa within seminiferous tubules or the cauda epididymis exhibit round heads
• mature spermatozoa isolated from the caudae epididymides lack acrosomes
• acrosome-less spermatozoa in the seminiferous tubules frequently exhibit irregularly shaped nuclei
• spermatozoa isolated from the caudae epididymides show a drastic reduction in motility




Genotype
MGI:6887369
cx2
Allelic
Composition
Slc9a8tm1d(KOMP)Wtsi/Slc9a8tm1d(KOMP)Wtsi
Tg(CAG-RFP,Acr-EGFP)RBGS002Osb/0
Genetic
Background
involves: C57BL/6 * C57BL/6N * DBA/2
Cell Lines EPD0033_5_A07
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc9a8tm1d(KOMP)Wtsi mutation (0 available); any Slc9a8 mutation (108 available)
Tg(CAG-RFP,Acr-EGFP)RBGS002Osb mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• mature spermatozoa show abnormal mitochondrial distribution: mitochondria are found in sperm heads instead of forming a sheath around the initial part of the sperm tail
• mature spermatozoa isolated from the caudae epididymides lack acrosomes

cellular
• mature spermatozoa show abnormal mitochondrial distribution: mitochondria are found in sperm heads instead of forming a sheath around the initial part of the sperm tail
• mature spermatozoa isolated from the caudae epididymides lack acrosomes





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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
11/12/2024
MGI 6.24
The Jackson Laboratory