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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ccdc181em1Qsh
endonuclease-mediated mutation 1, Qinghua Shi
MGI:7785523
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ccdc181em1Qsh/Ccdc181em1Qsh C57BL/6J-Ccdc181em1Qsh MGI:7785562


Genotype
MGI:7785562
hm1
Allelic
Composition
Ccdc181em1Qsh/Ccdc181em1Qsh
Genetic
Background
C57BL/6J-Ccdc181em1Qsh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccdc181em1Qsh mutation (0 available); any Ccdc181 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• spermatozoa from the cauda epididymis display malformed flagella, including coiled, short, bent, absent, and irregular forms, which are typical features of multiple morphological abnormalities of flagella (MMAF)
• however, mice do not show any obvious signs of primary ciliary dyskinesia, with lung and tracheal cilia similar to wild-type
• the axoneme structure in sperm flagella is severely disorganized
• in some spermatozoa
• in some spermatozoa
• in some spermatozoa
• in some spermatozoa
• sperm counts from the cauda epididymis are reduced
• decrease in the number of elongating and elongated spermatids within the seminiferous tubules, especially in the number of elongated spermatids at steps 15 and 16 (stages V-VIII), indicating abnormalities during spermiogenesis
• reduction in the ratios of spermatids to Sertoli cells from steps 15 to 16, with the number of step 16 spermatids decreased
• 50% of the spermatozoa in the cauda epididymis exhibit abnormal head shapes
• During steps 11 to 13, spermatids display an abnormal club-shaped head morphology, while wild-type spermatids exhibit normal hook-shaped heads
• distribution of the acroplaxome is disturbed, showing detached, irregular, and fragmented F-actin distribution
• sperm have more absent or aberrant acrosomes
• sperm exhibit detachment of the acrosome from the nucleus
• mice display significantly longer manchettes compared to controls in step 11 to 13 spermatids, leading to the presence of abnormal spermatid heads
• however, manchette formation in step 8 to 10 spermatids is normal
• increase in the number of apoptotic cells per seminiferous tubule
• sperm show decreased motility
• males exhibit normal mounting behaviors and produce coital plugs but fail to produce offspring when mated with wild-type females
• however, females produce normal litter sizes when mated with wild-type males
• however, males show normal growth and development, with normal testicular size and testis/body weight ratios

cellular
• spermatozoa from the cauda epididymis display malformed flagella, including coiled, short, bent, absent, and irregular forms, which are typical features of multiple morphological abnormalities of flagella (MMAF)
• however, mice do not show any obvious signs of primary ciliary dyskinesia, with lung and tracheal cilia similar to wild-type
• the axoneme structure in sperm flagella is severely disorganized
• in some spermatozoa
• in some spermatozoa
• in some spermatozoa
• in some spermatozoa
• sperm counts from the cauda epididymis are reduced
• decrease in the number of elongating and elongated spermatids within the seminiferous tubules, especially in the number of elongated spermatids at steps 15 and 16 (stages V-VIII), indicating abnormalities during spermiogenesis
• reduction in the ratios of spermatids to Sertoli cells from steps 15 to 16, with the number of step 16 spermatids decreased
• 50% of the spermatozoa in the cauda epididymis exhibit abnormal head shapes
• During steps 11 to 13, spermatids display an abnormal club-shaped head morphology, while wild-type spermatids exhibit normal hook-shaped heads
• distribution of the acroplaxome is disturbed, showing detached, irregular, and fragmented F-actin distribution
• sperm have more absent or aberrant acrosomes
• sperm exhibit detachment of the acrosome from the nucleus
• mice display significantly longer manchettes compared to controls in step 11 to 13 spermatids, leading to the presence of abnormal spermatid heads
• however, manchette formation in step 8 to 10 spermatids is normal
• increase in the number of apoptotic cells per seminiferous tubule
• sperm show decreased motility





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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory