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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ccdc146em1Cya
endonuclease-mediated mutation 1, Cyagen Biosciences
MGI:7577422
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ccdc146em1Cya/Ccdc146em1Cya Not Specified MGI:7577474


Genotype
MGI:7577474
hm1
Allelic
Composition
Ccdc146em1Cya/Ccdc146em1Cya
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccdc146em1Cya mutation (1 available); any Ccdc146 mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• cauda epididymis shows complete lack of spermatozoa and only a few spermatozoa are seen in the epididymal lumen
• sperm count is significantly decreased
• caudal epididymis only contains malformed spermatozoa
• abnormal sperm heads with short tails and normal sperm heads with curly tails are major defect types, but spermatozoa with normal sperm head and short tail, abnormal sperm head and curly tail, normal sperm head and no tail, and abnormal sperm head and no tail are also seen
• spermatozoa exhibit short, coiled, or absent flagella
• outer dense fibers are abnormally organized in spermatozoa
• several extra outer dense fibers are seen in the flagellum
• the axoneme is absent in step 2-3 spermatids, abnormally formed flagella are found in the testis during step 4-6
• axonemes are abnormally organized in spermatozoa
• in some spermatozoa
• in some spermatozoa
• in some spermatozoa
• abnormal sperm heads
• manchette formation is normal in step 8-10 spermatids, while manchettes are abnormally longer during step 11-13
• during the chromatin condensation period starting from step 11 spermatids, the manchette appear abnormally long and the perinuclear ring constricts the sperm nucleus, causing severe defects in sperm head formation
• during the chromatin condensation period starting from step 11 spermatids, the perinuclear ring constricts the sperm nucleus
• manchettes are abnormally longer during step 11-13 of spermiogenesis
• no motile spermatozoa are seen and sperm motility parameters such as straight-line velocity, curvi linear velocity, and amplitude of lateral head displacement are at zero
• however, no differences in the beating of trachea cilia indicating no differences in cilia mobility in the respiratory tract
• most prominent defects are seen at the spermatid stage of spermiogenesis, where abnormally elongated and constricted sperm heads are seen
• analysis of sperm head shaping indicates normal acrosome and nucleus morphology from step 1 to step 8 and normal morphology of elongated heads at step 9-10 but abnormal club-shaped heads at step 11 spermatids which become more apparent between step 11 and 16
• mice show impaired sperm flagellum biogenesis, with absent axoneme in step 2-3 spermatids and abnormally formed flagella during step 4-6
• mice show impaired manchette function
• males fail to produce offspring after mating with wild-type females despite normal mounting behaviors and production of coital plugs
• however, testis size and testis weight to body weight ratio are normal, and Sertoli cells are not affected
• however, female fertility is normal

cellular
• cauda epididymis shows complete lack of spermatozoa and only a few spermatozoa are seen in the epididymal lumen
• sperm count is significantly decreased
• caudal epididymis only contains malformed spermatozoa
• abnormal sperm heads with short tails and normal sperm heads with curly tails are major defect types, but spermatozoa with normal sperm head and short tail, abnormal sperm head and curly tail, normal sperm head and no tail, and abnormal sperm head and no tail are also seen
• spermatozoa exhibit short, coiled, or absent flagella
• outer dense fibers are abnormally organized in spermatozoa
• several extra outer dense fibers are seen in the flagellum
• the axoneme is absent in step 2-3 spermatids, abnormally formed flagella are found in the testis during step 4-6
• axonemes are abnormally organized in spermatozoa
• in some spermatozoa
• in some spermatozoa
• in some spermatozoa
• abnormal sperm heads
• manchette formation is normal in step 8-10 spermatids, while manchettes are abnormally longer during step 11-13
• during the chromatin condensation period starting from step 11 spermatids, the manchette appear abnormally long and the perinuclear ring constricts the sperm nucleus, causing severe defects in sperm head formation
• during the chromatin condensation period starting from step 11 spermatids, the perinuclear ring constricts the sperm nucleus
• manchettes are abnormally longer during step 11-13 of spermiogenesis
• no motile spermatozoa are seen and sperm motility parameters such as straight-line velocity, curvi linear velocity, and amplitude of lateral head displacement are at zero
• however, no differences in the beating of trachea cilia indicating no differences in cilia mobility in the respiratory tract

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
male infertility DOID:12336 J:344445





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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory