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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cfap61em1Mngx
endonuclease-mediated mutation 1, Mingxi Liu
MGI:6864090
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cfap61em1Mngx/Cfap61em1Mngx Not Specified MGI:6864269


Genotype
MGI:6864269
hm1
Allelic
Composition
Cfap61em1Mngx/Cfap61em1Mngx
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cfap61em1Mngx mutation (0 available); any Cfap61 mutation (63 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• adult males show normal testis size and testis/body weight ratio relative to wild-type males
• almost all spermatozoa exhibit multiple abnormal flagellar morphologies including absent, short, coiled, angulation, and irregular caliber
• however, acrosome morphology is normal
• abnormal sperm flagella assembly occurs from step 3 round spermatids: microtubules become disordered and fail to form a normal 9 + 2 axoneme structure
• TEM analysis showed that microtubules and outer dense fibers are separated from the axoneme
• as spermiogenesis progresses, the axoneme becomes unstable and completely scattered
• however, centriole anchoring and implantation fossa formation are normal
• expression of radial spoke proteins RSPH9 and NME5 is markedly low, indicating defects in the formation of the radial spoke structure in the sperm flagellum
• assembly of RSPH9 is normal in round spermatids but missing in elongating spermatids, whereas assembly of NME5 is missing in both round and elongating spermatids
• number of spermatozoa collected from cauda epididymis is significantly lower than in wild-type controls
• epididymal sperm exhibit a state of immobility
• assembly of radial spoke components in the sperm flagellum axoneme is impaired during early stages of spermatid development
• as spermiogenesis progresses, the axoneme becomes unstable and scattered, and the distribution of intraflagellar transport proteins is disrupted
• despite normal copulation, males fail to sire offspring when bred with wild-type females

cellular
• almost all spermatozoa exhibit multiple abnormal flagellar morphologies including absent, short, coiled, angulation, and irregular caliber
• however, acrosome morphology is normal
• abnormal sperm flagella assembly occurs from step 3 round spermatids: microtubules become disordered and fail to form a normal 9 + 2 axoneme structure
• TEM analysis showed that microtubules and outer dense fibers are separated from the axoneme
• as spermiogenesis progresses, the axoneme becomes unstable and completely scattered
• however, centriole anchoring and implantation fossa formation are normal
• expression of radial spoke proteins RSPH9 and NME5 is markedly low, indicating defects in the formation of the radial spoke structure in the sperm flagellum
• assembly of RSPH9 is normal in round spermatids but missing in elongating spermatids, whereas assembly of NME5 is missing in both round and elongating spermatids
• number of spermatozoa collected from cauda epididymis is significantly lower than in wild-type controls
• epididymal sperm exhibit a state of immobility

respiratory system
N
• mice exhibit normal length and beating of trachea cilia with no changes in the distribution of RSPH9 (a component of the 12S radial spoke complex) or NME5 (a component of the 20S radial spoke complex) relative to wild-type cilia





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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
11/12/2024
MGI 6.24
The Jackson Laboratory