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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Rsph6aem1Osb
endonuclease-mediated mutation 1, Osaka University
MGI:6241356
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Rsph6aem1Osb/Rsph6aem1Osb involves: C57BL/6NJcl * DBA/2NJcl MGI:6241367


Genotype
MGI:6241367
hm1
Allelic
Composition
Rsph6aem1Osb/Rsph6aem1Osb
Genetic
Background
involves: C57BL/6NJcl * DBA/2NJcl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rsph6aem1Osb mutation (2 available); any Rsph6a mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• immotile sperm
• absence of elongated sperm tails (stage VII-VIII) in seminiferous tubules
• however, spermatogonia and spermatocyte development are comparable to controls
• retained elongated spermatids are frequently seen in stage IX tubules
• axonemes with disrupted 9+2 patterns are seen in the mitochondrial sheath
• expression of TOMM20 is absent or mislocalized indicating disruption of mitochondrial sheath formation
• expression of CABYR is absent or uneven indicating a defect in fibrous sheath formation
• average length is 24.6 +/- 22.9 um
• abnormal head shapes indicate impaired nuclear condensation
• club-shaped heads
• removal or caudal movement of manchettes is atypical
• males form copulatory plugs but fail to sire litters
• males can produce viable offspring with intracytoplasmic sperm injection

cellular
• axonemes with disrupted 9+2 patterns are seen in the mitochondrial sheath
• expression of TOMM20 is absent or mislocalized indicating disruption of mitochondrial sheath formation
• expression of CABYR is absent or uneven indicating a defect in fibrous sheath formation
• average length is 24.6 +/- 22.9 um
• abnormal head shapes indicate impaired nuclear condensation
• club-shaped heads
• removal or caudal movement of manchettes is atypical
• immotile sperm





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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
05/14/2024
MGI 6.23
The Jackson Laboratory