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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cfap119em1Gaof
endonuclease-mediated mutation 1, Fei Gao
MGI:7594036
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cfap119em1Gaof/Cfap119em1Gaof involves: 129/SvEv * C57BL/6 MGI:7596132
ht2
Cfap119em1Gaof/Cfap119em2Gaof involves: 129/SvEv * C57BL/6 MGI:7596137


Genotype
MGI:7596132
hm1
Allelic
Composition
Cfap119em1Gaof/Cfap119em1Gaof
Genetic
Background
involves: 129/SvEv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cfap119em1Gaof mutation (0 available); any Cfap119 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• sperm count is dramatically decreased
• most sperm are malformed
• immunofluorescence of the sperm flagella marker AQP3 (aquaporin 3) showed only a punctate AQP3 signal in testes
• most sperm show short, coiled or helical flagella
• percentage of multiple sperm axonemal structural defects is significantly increased
• percentage of abnormal sperm mitochondria significantly increased
• SEM revealed sperm with a coiled fibrous sheath
• percentage of abnormal sperm heads is significantly increased
• PNA-positive acrosomes appear abnormal
• elongating spermatids exhibit abnormally elongated manchettes at steps 11-12
• percentage of motile spermatozoa is dramatically reduced
• adult testis size is significantly reduced
• adult testis/body weight ratio is significantly reduced
• however, adult body weight is normal
• only a small number of mature spermatozoa are noted in the epididymis
• however, no obvious histological changes are detected in the seminiferous tubules and early stage of germ cell development is normal
• males are completely sterile
• however, no obvious developmental defects are observed in adult mice

cellular
N
• tracheal epithelial cells show a normal number of ciliated cells and normal cilial morphology
• mouse embryonic fibroblasts (MEFs) show normal serum starvation-induced ciliogenesis with normal primary cilia number and cilial length
• sperm count is dramatically decreased
• most sperm are malformed
• immunofluorescence of the sperm flagella marker AQP3 (aquaporin 3) showed only a punctate AQP3 signal in testes
• most sperm show short, coiled or helical flagella
• percentage of multiple sperm axonemal structural defects is significantly increased
• percentage of abnormal sperm mitochondria significantly increased
• SEM revealed sperm with a coiled fibrous sheath
• percentage of abnormal sperm heads is significantly increased
• PNA-positive acrosomes appear abnormal
• elongating spermatids exhibit abnormally elongated manchettes at steps 11-12
• percentage of motile spermatozoa is dramatically reduced

endocrine/exocrine glands
• adult testis size is significantly reduced
• adult testis/body weight ratio is significantly reduced
• however, adult body weight is normal




Genotype
MGI:7596137
ht2
Allelic
Composition
Cfap119em1Gaof/Cfap119em2Gaof
Genetic
Background
involves: 129/SvEv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cfap119em1Gaof mutation (0 available); any Cfap119 mutation (14 available)
Cfap119em2Gaof mutation (0 available); any Cfap119 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• male mice are fertile, indicating that the EGFP-tagged protein is similar to the wild-type in terms of function





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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