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Allele Symbol Allele Name Allele ID |
Drc1em3Mngx endonuclease-mediated mutation 2, Mingxi Liu MGI:7294420 |
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| Summary |
2 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• all mice exhibit prepuberal death
• Background Sensitivity: postnatal survival is significantly extended on a mixed C57BL/6 x ICR genetic background
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• all mice exhibit hydrocephalus
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 64.5% of mice are alive after puberty
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• postnatal survival is significantly extended on a C57BL/6 x ICR genetic background
• Background Sensitivity: on a C57BL/6 background, all mice exhibit prepuberal death
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• 22 of 62 prepubertal mice exhibit hydrocephaly
• however, mice that survive to adulthood show no hydrocephaly
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• nearly all cauda epididymal sperm show tail abnormalities including short, bent, curled, thick or absent flagella
• in contrast, acrosome morphology is normal
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• sperm show a disorganized axoneme with outer dense fibers separated by microtubules, and absence of a nexin-dynein regulatory complex (N-DRC), radial spokes and dynein arms
• although axoneme assembly occurs normally in early-stage round spermatids, microtubule structures become increasingly disordered during spermatid differentiation such that a normal axoneme structure is no longer present
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• sperm show absence of radial spokes
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• short or absent flagella are observed in the cauda epididymis
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• curled sperm flagella are observed
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• bent sperm flagella are observed
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• sperm lacking flagella of normal length are detected within the lumen of seminiferous tubules
• short or absent flagella are also observed in the cauda epididymis
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• decreased sperm counts are observed in the cauda epididymis
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• sperm head deformities are commonly observed
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• elongating spermatids show a long and narrow manchette distribution around the nucleus leading to nuclear deformation and amorphous sperm heads
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• sperm from the caput epididymis show complete absence of motility
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• although axoneme assembly occurs normally in early-stage round spermatids, microtubule structures become increasingly disordered during spermatid differentiation such that a normal axoneme structure is no longer present
• elongating spermatids show a long and narrow manchette distribution around the nucleus leading to nuclear deformation and amorphous sperm heads
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• when mated with wild-type female mice, adult males fail to sire any pups despite normal copulation
• however, gross testis morphology and average testis weight/body weight ratio are normal
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• respiratory cilia are significantly shorter and lack nexin-dynein regulatory complex (N-DRC) structure formation
• however, unlike sperm flagella, respiratory cilia maintain normal 9 + 2 microtubule, radial spoke and dynein arm structural arrangements
• immunofluorescence staining confirmed the absence of DRC1, DRC2 and DRC4 in respiratory tract cilia whereas RSPH9 signal intensity is unchanged, suggesting that the radial spoke structure is normal
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• nearly all cauda epididymal sperm show tail abnormalities including short, bent, curled, thick or absent flagella
• in contrast, acrosome morphology is normal
|
|
|
• sperm show a disorganized axoneme with outer dense fibers separated by microtubules, and absence of a nexin-dynein regulatory complex (N-DRC), radial spokes and dynein arms
• although axoneme assembly occurs normally in early-stage round spermatids, microtubule structures become increasingly disordered during spermatid differentiation such that a normal axoneme structure is no longer present
|
|
|
• sperm show absence of radial spokes
|
|
|
• short or absent flagella are observed in the cauda epididymis
|
|
|
• curled sperm flagella are observed
|
|
|
• bent sperm flagella are observed
|
|
|
• sperm lacking flagella of normal length are detected within the lumen of seminiferous tubules
• short or absent flagella are also observed in the cauda epididymis
|
|
|
• decreased sperm counts are observed in the cauda epididymis
|
|
|
• sperm head deformities are commonly observed
|
|
|
• elongating spermatids show a long and narrow manchette distribution around the nucleus leading to nuclear deformation and amorphous sperm heads
|
|
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• sperm from the caput epididymis show complete absence of motility
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• tracheal epithelial cells lacking the N-DRC structure exhibit abnormal ciliary motility
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• respiratory cilia are significantly shorter and lack nexin-dynein regulatory complex (N-DRC) structure formation
• however, unlike sperm flagella, respiratory cilia maintain normal 9 + 2 microtubule, radial spoke and dynein arm structural arrangements
• immunofluorescence staining confirmed the absence of DRC1, DRC2 and DRC4 in respiratory tract cilia whereas RSPH9 signal intensity is unchanged, suggesting that the radial spoke structure is normal
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• tracheal epithelial cells lacking the N-DRC structure exhibit abnormal ciliary motility
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| N |
• mice that survive to adulthood do not exhibit decreased body size
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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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last database update 04/30/2024 MGI 6.23 |
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