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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Pdcl2em1Ncvc
endonuclease-mediated mutation 1, National Cerebral and Cardiovascular Center
MGI:7546801
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Pdcl2em1Ncvc/Pdcl2em1Ncvc involves: C57BL/6 * DBA/2 MGI:7546836
cx2
 		Pdcl2em1Ncvc/Pdcl2em1Ncvc
Tg(CAG-RFP,Acr-EGFP)RBGS002Osb/0 		involves: C57BL/6 * DBA/2 MGI:7546844


Genotype
MGI:7546836
hm1
Allelic
Composition		 Pdcl2em1Ncvc/Pdcl2em1Ncvc
Genetic
Background		 involves: C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdcl2em1Ncvc mutation (0 available); any Pdcl2 mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
immotile sperm ( J:338084 )
• spermatozoa are immotile and spermatozoa incubated in a capacitating medium exhibit a severe decrease in overall motility
small seminiferous tubules ( J:338084 )
• lumen of seminiferous tubules is on average smaller than wild-type tubules
small testis ( J:338084 )
• the testis to body weight ratio is reduced
abnormal spermatogenesis ( J:338084 )
• defects in spermatogenesis, with impaired nuclear condensation
• seminiferous tubules show impaired production of spermatids
abnormal sperm flagellum morphology ( J:338084 )
• sperm flagella show deformities
abnormal sperm axoneme morphology ( J:338084 )
• sperm flagella show disrupted axonemes
abnormal sperm midpiece morphology ( J:338084 )
• mature spermatozoa show disorganized mitochondria sequestered in cytoplasmic droplets
• sperm flagella show incomplete midpieces
abnormal sperm head morphology ( J:338084 )
• 100% of spermatozoa have abnormal head shapes
abnormal acrosome assembly ( J:338084 )
• abnormal acrosome biogenesis with lack of acrosomal cap formation
globozoospermia ( J:338084 )
• spermatozoa have round, granular heads, instead of the hook-like shape
absent acrosome ( J:338084 )
• sperm heads have no acrosomal cap
detached acrosome ( J:338084 )
• spermatozoa show abnormal dissociation of the acrosome and the granule during cap biogenesis in the testis
abnormal sperm nucleus morphology ( J:338084 )
• sperm heads have misshapen nuclei
abnormal spermiogenesis ( J:338084 )
• spermatozoa show abnormal dissociation of the acrosome and the granule during cap biogenesis in the testis
• the testicular form of SPACA1 in round spermatids is aberrantly retained indicating abnormal sperm maturation
male infertility ( J:338084 )
• males are sterile despite the formation of copulatory plugs

endocrine/exocrine glands
small seminiferous tubules ( J:338084 )
• lumen of seminiferous tubules is on average smaller than wild-type tubules
small testis ( J:338084 )
• the testis to body weight ratio is reduced

cellular
abnormal sperm flagellum morphology ( J:338084 )
• sperm flagella show deformities
abnormal sperm axoneme morphology ( J:338084 )
• sperm flagella show disrupted axonemes
abnormal sperm midpiece morphology ( J:338084 )
• mature spermatozoa show disorganized mitochondria sequestered in cytoplasmic droplets
• sperm flagella show incomplete midpieces
abnormal sperm head morphology ( J:338084 )
• 100% of spermatozoa have abnormal head shapes
abnormal acrosome assembly ( J:338084 )
• abnormal acrosome biogenesis with lack of acrosomal cap formation
globozoospermia ( J:338084 )
• spermatozoa have round, granular heads, instead of the hook-like shape
absent acrosome ( J:338084 )
• sperm heads have no acrosomal cap
detached acrosome ( J:338084 )
• spermatozoa show abnormal dissociation of the acrosome and the granule during cap biogenesis in the testis
abnormal sperm nucleus morphology ( J:338084 )
• sperm heads have misshapen nuclei
immotile sperm ( J:338084 )
• spermatozoa are immotile and spermatozoa incubated in a capacitating medium exhibit a severe decrease in overall motility




Genotype
MGI:7546844
cx2
Allelic
Composition		 Pdcl2em1Ncvc/Pdcl2em1Ncvc
Tg(CAG-RFP,Acr-EGFP)RBGS002Osb/0
Genetic
Background		 involves: C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdcl2em1Ncvc mutation (0 available); any Pdcl2 mutation (21 available)
Tg(CAG-RFP,Acr-EGFP)RBGS002Osb mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
abnormal sperm flagellum morphology ( J:338084 )
• spermatozoa do not have clear and continuous signaling throughout the entire length of the flagellar midpiece, indicating an issue with flagella formation during spermatogenesis

cellular
abnormal sperm flagellum morphology ( J:338084 )
• spermatozoa do not have clear and continuous signaling throughout the entire length of the flagellar midpiece, indicating an issue with flagella formation during spermatogenesis




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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
11/12/2024
MGI 6.24 		The Jackson Laboratory