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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Rnf133em1Zuk
endonuclease-mediated mutation 1, Martin M Matzuk
MGI:7378666
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Rnf133em1Zuk/Rnf133em1Zuk involves: 129S5/SvEvBrd * C57BL/6NCrl * DBA/2NCrl MGI:7734998
cx2
 		Rnf133em1Zuk/Rnf133em1Zuk
Rnf148em2Zuk/Rnf148em2Zuk 		involves: 129S5/SvEvBrd * C57BL/6NCrl * DBA/2NCrl MGI:7734999


Genotype
MGI:7734998
hm1
Allelic
Composition		 Rnf133em1Zuk/Rnf133em1Zuk
Genetic
Background		 involves: 129S5/SvEvBrd * C57BL/6NCrl * DBA/2NCrl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rnf133em1Zuk mutation (0 available); any Rnf133 mutation (12 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
teratozoospermia ( J:330415 )
• 67-fold increase in the percentage of abnormal morphology immotile sperm
abnormal sperm head morphology ( J:330415 )
• testes show an increase in sperm nuclei surrounded by excess cytoplasm at stage IX (80.6% percent of sperm vs. 20.5% of sperm in controls)
• caudal epididymis sperm have morphologically normal nuclei, however the cytoplasm around the nuclei and neck is retained and contains organelles such as the endoplasmic reticulum and vacuoles
abnormal sperm motility ( J:330415 )
• velocity parameters of sperm (average path velocity [VAP], curvilinear velocity [VCL], and straight-line velocity [VSL]) are impaired, with both a decrease in VAP and VSL at 15 min of incubation in TYH medium and VCL at 120 min of incubation in TYH medium
asthenozoospermia ( J:330415 )
• percentage of motile sperm and amount of progressive motility are decreased after 15 min incubation in TYH medium but no difference in total motile sperm or progressive motility is seen after 120 min incubation in TYH medium
• 1.9-fold decrease in the percentage of normal morphology motile sperm
• 10.1-fold increase in the percentage of normal morphology immotile sperm
• 67-fold increase in the percentage of abnormal morphology immotile sperm
decreased hyperactivated sperm motility ( J:330415 )
• sperm do not show a dramatic change in hyperactivation when incubated in capacitation medium
reduced male fertility ( J:330415 )
• males produce only 10 +/- 10% pregnancy success and father fewer pups/plug compared to heterozygotes which have a 100% successful pregnancy rate
• however, spermatogenesis is grossly normal and males show no differences in sexual behavior and sperm counts from the cauda epididymis are normal
• sperm from homozygous males only fertilize 6.8 +/- 3% of wild-type oocytes with in vitro fertilization and result in 1.4 +/- 0.7% 2-cell stage embryos
• fertilization rate by sperm is lower for in vivo fertilization, producing 17.2 +/- 4.1% pronuclei positive and 18.4 +/- 4.4% 2-cell stage embryos

cellular
teratozoospermia ( J:330415 )
• 67-fold increase in the percentage of abnormal morphology immotile sperm
abnormal sperm head morphology ( J:330415 )
• testes show an increase in sperm nuclei surrounded by excess cytoplasm at stage IX (80.6% percent of sperm vs. 20.5% of sperm in controls)
• caudal epididymis sperm have morphologically normal nuclei, however the cytoplasm around the nuclei and neck is retained and contains organelles such as the endoplasmic reticulum and vacuoles
abnormal sperm motility ( J:330415 )
• velocity parameters of sperm (average path velocity [VAP], curvilinear velocity [VCL], and straight-line velocity [VSL]) are impaired, with both a decrease in VAP and VSL at 15 min of incubation in TYH medium and VCL at 120 min of incubation in TYH medium
asthenozoospermia ( J:330415 )
• percentage of motile sperm and amount of progressive motility are decreased after 15 min incubation in TYH medium but no difference in total motile sperm or progressive motility is seen after 120 min incubation in TYH medium
• 1.9-fold decrease in the percentage of normal morphology motile sperm
• 10.1-fold increase in the percentage of normal morphology immotile sperm
• 67-fold increase in the percentage of abnormal morphology immotile sperm
decreased hyperactivated sperm motility ( J:330415 )
• sperm do not show a dramatic change in hyperactivation when incubated in capacitation medium




Genotype
MGI:7734999
cx2
Allelic
Composition		 Rnf133em1Zuk/Rnf133em1Zuk
Rnf148em2Zuk/Rnf148em2Zuk
Genetic
Background		 involves: 129S5/SvEvBrd * C57BL/6NCrl * DBA/2NCrl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rnf133em1Zuk mutation (0 available); any Rnf133 mutation (12 available)
Rnf148em2Zuk mutation (0 available); any Rnf148 mutation (26 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
teratozoospermia ( J:330415 )
• 82-fold increase in the percentage of abnormal morphology immotile sperm
hairpin sperm flagellum ( J:330415 )
• sperm exhibit abnormal morphologies, including bending at the head/midpiece and bending at the midpiece/principal piece
abnormal sperm head morphology ( J:330415 )
• testes show an increase in sperm nuclei surrounded by excess cytoplasm at stage IX (89.2% percent of sperm vs. 20.5% of sperm in controls)
asthenozoospermia ( J:330415 )
• decrease in the percentage of motile sperm and progressive motility
• 2.5-fold decrease in the percentage of normal morphology motile sperm
• 12.8-fold increase in the percentage of normal morphology immotile sperm
• 82-fold increase in the percentage of abnormal morphology immotile sperm
decreased hyperactivated sperm motility ( J:330415 )
• sperm do not show a dramatic change in hyperactivation when incubated in capacitation medium
reduced male fertility ( J:330415 )
• males are subfertile; homozygous males mated with wild-type females produce fewer pups per litter
• subfertility remains at a similar level as single Rnf133 null males
• however, spermatogenesis is grossly normal and males exhibit normal testicular size, weight and caudal epididymal sperm

cellular
teratozoospermia ( J:330415 )
• 82-fold increase in the percentage of abnormal morphology immotile sperm
hairpin sperm flagellum ( J:330415 )
• sperm exhibit abnormal morphologies, including bending at the head/midpiece and bending at the midpiece/principal piece
abnormal sperm head morphology ( J:330415 )
• testes show an increase in sperm nuclei surrounded by excess cytoplasm at stage IX (89.2% percent of sperm vs. 20.5% of sperm in controls)
asthenozoospermia ( J:330415 )
• decrease in the percentage of motile sperm and progressive motility
• 2.5-fold decrease in the percentage of normal morphology motile sperm
• 12.8-fold increase in the percentage of normal morphology immotile sperm
• 82-fold increase in the percentage of abnormal morphology immotile sperm
decreased hyperactivated sperm motility ( J:330415 )
• sperm do not show a dramatic change in hyperactivation when incubated in capacitation medium




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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
10/09/2024
MGI 6.24 		The Jackson Laboratory