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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Frey1em1Osb
endonuclease-mediated mutation 1, Research Institute for Microbial Diseases, Osaka University
MGI:7495885
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Frey1em1Osb/Frey1em1Osb involves: C57BL/6 * DBA/2 MGI:7506549
cx2
Frey1em1Osb/Frey1em1Osb
Tg(Clgn-Frey1)1Osb/0
involves: C57BL/6 * DBA/2 MGI:7506565


Genotype
MGI:7506549
hm1
Allelic
Composition
Frey1em1Osb/Frey1em1Osb
Genetic
Background
involves: C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Frey1em1Osb mutation (2 available); any Frey1 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• female mice exhibit normal fecundity (J:337566)
N
• despite a severe reduction in fecundity, male mice display normal testis weights, spermatogenesis, sperm morphology, and sperm counts (J:337566)
• although sperm fertilizing ability is impaired, sperm show normal motility and ability to bind the zone pellucida (ZP) (J:337566)
• testes show normal expression of sperm plasma membrane proteins but reduced abundance of multiple acrosomal membrane proteins involved in fertilization
• despite successful coituses, males are severely subfertile, as indicated by a drastic reduction in the pregnancy rate, average number of pups per litter, and average number of pups per plug
• in vitro fertilization analyses revealed that sperm showed significantly reduced ability to fertilize cumulus-intact, cumulus-free, and ZP-free eggs
• sperm fail to fertilize eggs in vivo and accumulate in the perivitelline space, indicating that they undergo the acrosome reaction and penetrate the ZP but fail to fuse with the eggs
• sperm-egg binding and fusion assays indicate that sperm bind but do not fuse with the oolemma
• sperm show upregulated chaperones related to ER-associated degradation (ERAD) and elevated protein ubiquitination
• strikingly, SPACA6 (known to play a key role in sperm-egg binding or fusion) is undetectable in spermatozoa

endocrine/exocrine glands
• testes show normal expression of sperm plasma membrane proteins but reduced abundance of multiple acrosomal membrane proteins involved in fertilization




Genotype
MGI:7506565
cx2
Allelic
Composition
Frey1em1Osb/Frey1em1Osb
Tg(Clgn-Frey1)1Osb/0
Genetic
Background
involves: C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Frey1em1Osb mutation (2 available); any Frey1 mutation (8 available)
Tg(Clgn-Frey1)1Osb mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• mice exhibit no significant differences in male fertility relative to wild-type controls, as determined by the number of pups per litter





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last database update
05/07/2024
MGI 6.23
The Jackson Laboratory