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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Asb17em1Bzhg
endonuclease-mediated mutation 1, Bo Zheng
MGI:7314167
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Asb17em1Bzhg/Asb17em1Bzhg involves: CD-1 MGI:7314168


Genotype
MGI:7314168
hm1
Allelic
Composition
Asb17em1Bzhg/Asb17em1Bzhg
Genetic
Background
involves: CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Asb17em1Bzhg mutation (0 available); any Asb17 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• adult male mice are fertile and show no significant differences in gross testis morphology, testis/body weight ratio, sperm morphology or sperm motility relative to wild-type control males
• adult males show a significant decrease in cauda epididymal sperm concentration relative to wild-type control males
• spermatids show aberrant F-actin organization in the apical ectoplasmic specialization (ES) junction, resulting in retention of mature spermatozoa within the seminiferous epithelium
• although apical ES formation is normal, F-actin bundles are unable to disassemble and the apical ES synchronously stretches along with the acrosome, rather than being completely removed from the acrosome region as in wild-type mature spermatozoa
• testes show significantly increased levels of the actin-binding protein ESPN (espin), whereas Espn mRNA levels are similar to those in wild-type testes
• ubiquitination analysis of testicular lysates showed that levels of poly-ubiquitinated ESPN are significantly lower than in wild-type testes
• although spermatogenesis is complete, many mature spermatozoa are abnormally retained in the seminiferous epithelium at stages IX to XI of the epithelial cycle, indicating spermiation failure
• marked accumulation of ESPN (espin) protein is observed in the retained mature spermatozoa
• spermiation failure is likely due to impaired ASB17-mediated ubiquitination and subsequent degradation of ESPN

cellular
• adult males show a significant decrease in cauda epididymal sperm concentration relative to wild-type control males

endocrine/exocrine glands
• spermatids show aberrant F-actin organization in the apical ectoplasmic specialization (ES) junction, resulting in retention of mature spermatozoa within the seminiferous epithelium
• although apical ES formation is normal, F-actin bundles are unable to disassemble and the apical ES synchronously stretches along with the acrosome, rather than being completely removed from the acrosome region as in wild-type mature spermatozoa
• testes show significantly increased levels of the actin-binding protein ESPN (espin), whereas Espn mRNA levels are similar to those in wild-type testes
• ubiquitination analysis of testicular lysates showed that levels of poly-ubiquitinated ESPN are significantly lower than in wild-type testes





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