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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ift74tm1c(EUCOMM)Hmgu
targeted mutation 1c, Helmholtz Zentrum Muenchen GmbH
MGI:6391391
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Ift74tm1c(EUCOMM)Hmgu/Ift74tm1c(EUCOMM)Hmgu
Tg(Stra8-icre)1Reb/0
involves: 129S4/SvJaeSor * C57BL/6N * FVB/NJ MGI:6864146


Genotype
MGI:6864146
cn1
Allelic
Composition
Ift74tm1c(EUCOMM)Hmgu/Ift74tm1c(EUCOMM)Hmgu
Tg(Stra8-icre)1Reb/0
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6N * FVB/NJ
Cell Lines HEPD0774_6_H07
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift74tm1c(EUCOMM)Hmgu mutation (0 available); any Ift74 mutation (44 available)
Tg(Stra8-icre)1Reb mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• adult males show no differences in testis-to-body weight ratio relative to control males
• epididymal sperm count is dramatically reduced
• all of the few sperm collected from the cauda epididymides show a variety of abnormalities, including very short tails and mostly abnormally shaped heads
• spermatids show a variety of axonemal abnormalities in the seminiferous tubules, including a complete absence of the core axoneme, disorganized microtubules, clusters of microtubules, and abnormally formed axonemes without the central microtubules
• abnormally formed axonemes without the central microtubules are observed
• step 11 and 13 elongating spermatids lack tails
• all epididymal sperm have very short tails
• most epididymal sperm have grossly abnormal heads
• elongating spermatids show round and distorted heads
• however, acrosome formation appears to be normal
• elongating spermatids show round and distorted heads and absence of tails
• only ~2% of epididymal sperm are motile but their motility, calculated as curvilinear velocity (VCL), is significantly reduced
• vast majority of epididymal sperm are immotile
• seminiferous tubule lumen is almost empty, unlike in control tubules where sperm are found in the lumen
• testicular expression of IFT81 protein (a major IFT74 binding partner) and components of other IFT complex proteins (IFT27, IFT57, IFT88, and IFT140) are significantly reduced
• AKAP4 (a processed form of the major component of the fibrous sheath) is also significantly reduced
• stage XI seminiferous tubules show abnormal step 11 spermatids with abnormally shaped heads and absence of tails
• step 13 elongating spermatids lack tails while excess cytoplasm appears to be sloughed into the lumen
• cauda epididymal lumen is filled with massive amounts of large abnormal cytoplasmic bodies, residual bodies, sloughed round cells, and abnormal spermatids with short or absent tails
• failure of spermiation in stage VIII, with abnormal step 16 spermatids being phagocytized, although step 8 round spermatids and pachytene spermatocytes look normal in the same tubule
• residual bodies are not formed but small pieces of germ cell cytoplasm are retained at the luminal border
• when bred with adult wild-type females of known fertility for at least 2 months, none of the adult males tested sired any pups/litters, indicating complete male sterility

cellular
• epididymal sperm count is dramatically reduced
• all of the few sperm collected from the cauda epididymides show a variety of abnormalities, including very short tails and mostly abnormally shaped heads
• spermatids show a variety of axonemal abnormalities in the seminiferous tubules, including a complete absence of the core axoneme, disorganized microtubules, clusters of microtubules, and abnormally formed axonemes without the central microtubules
• abnormally formed axonemes without the central microtubules are observed
• step 11 and 13 elongating spermatids lack tails
• all epididymal sperm have very short tails
• most epididymal sperm have grossly abnormal heads
• elongating spermatids show round and distorted heads
• however, acrosome formation appears to be normal
• elongating spermatids show round and distorted heads and absence of tails
• only ~2% of epididymal sperm are motile but their motility, calculated as curvilinear velocity (VCL), is significantly reduced
• vast majority of epididymal sperm are immotile

endocrine/exocrine glands
• seminiferous tubule lumen is almost empty, unlike in control tubules where sperm are found in the lumen
• testicular expression of IFT81 protein (a major IFT74 binding partner) and components of other IFT complex proteins (IFT27, IFT57, IFT88, and IFT140) are significantly reduced
• AKAP4 (a processed form of the major component of the fibrous sheath) is also significantly reduced





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory