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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Rbm5sda
spermatid differentiation arrest
MGI:5563424
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Rbm5sda/Rbm5sda C57BL/6-Rbm5sda/MarpApb MGI:5564913
hm2
 		Rbm5sda/Rbm5sda involves: C57BL/6J * CBA MGI:5769990


Genotype
MGI:5564913
hm1
Allelic
Composition		 Rbm5sda/Rbm5sda
Genetic
Background		 C57BL/6-Rbm5sda/MarpApb
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rbm5sda mutation (2 available); any Rbm5 mutation (51 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
abnormal spermatid morphology ( J:104190 )
• round spermatid arrest and spermatid differentiation arrest
abnormal male germ cell apoptosis ( J:104190 )
• germ cell sloughing and apoptosis
arrest of spermatogenesis ( J:104190 )
• round spermatid arrest and spermatid differentiation arrest

cellular
abnormal spermatid morphology ( J:104190 )
• round spermatid arrest and spermatid differentiation arrest
abnormal male germ cell apoptosis ( J:104190 )
• germ cell sloughing and apoptosis




Genotype
MGI:5769990
hm2
Allelic
Composition		 Rbm5sda/Rbm5sda
Genetic
Background		 involves: C57BL/6J * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rbm5sda mutation (2 available); any Rbm5 mutation (51 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Spermatid differentiation arrest, germ cell sloughing and apoptosis lead to sterility in the Rbm5sda/Rbm5sda males

reproductive system
azoospermia ( J:223049 )
• no spermatozoa are found in adult epididymides
increased male germ cell apoptosis ( J:223049 )
• following arrest at step 8, germ cells are lost via sloughing as shown by the presence of immature germ cells within the epididymis
• at 8 weeks of age, the numbers of Caspase 3- and Caspase 9-positive cells per seminiferous tubule are significantly increased, indicating increased germ cell apoptosis
decreased testis weight ( J:223049 )
• ~50% reduction in testis weight at 8 weeks of age
testicular atrophy ( J:223049 )
• at 8 weeks of age
arrest of spermatogenesis ( J:223049 )
• spermatogenesis occurs up to step 8 of haploid germ cell development, after which germ cells are lost via both sloughing and apoptosis
arrest of spermiogenesis ( J:223049 )
• complete block of spermatid (haploid male germ cell) differentiation
• however, serum testosterone, FSH and LH levels are normal at 10-14 weeks of age
male infertility ( J:223049 )
• males are sterile at all ages examined (8 weeks to 6 months)
• Background Sensitivity: male sterility is uniform on both mixed C57BL/6J x CBA and congenic C57BL/6J genetic backgrounds

cellular
azoospermia ( J:223049 )
• no spermatozoa are found in adult epididymides
increased male germ cell apoptosis ( J:223049 )
• following arrest at step 8, germ cells are lost via sloughing as shown by the presence of immature germ cells within the epididymis
• at 8 weeks of age, the numbers of Caspase 3- and Caspase 9-positive cells per seminiferous tubule are significantly increased, indicating increased germ cell apoptosis

endocrine/exocrine glands
decreased testis weight ( J:223049 )
• ~50% reduction in testis weight at 8 weeks of age
testicular atrophy ( J:223049 )
• at 8 weeks of age

respiratory system
respiratory system phenotype ( J:223049 )
N
• contrary to expectation, both males and females show normal lung histology at 9 months of age




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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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Send questions and comments to User Support. 		last database update
09/24/2024
MGI 6.24 		The Jackson Laboratory