mortality/aging
• 6 of 36 mice develop hydrocephalus rapidly and die before weaning
|
reproductive system
• all males exhibit oligo-astheno-terato-zoospermia
|
• caudal sperm density of sexually mature males is decreased significantly
|
• epididymal sperm exhibits severe morphological defects
|
• lack of fully developed sperm flagella in the lumen of the seminiferous tubules
• accessory structures such as the outer dense fibers, the fibrous sheath in the principal piece and the spiral mitochondria in the midpiece are infrequently seen and instead many abnormal vesicles are seen in the cytoplasm
|
• flagella of the spermatids undergoing cytodifferentiation often has abnormal fibrous materials resembling that of singlet microtubules, instead of the well-organized axoneme
• early-phase spermatids with round nuclei, long developing flagella with an intact axoneme without accessory structures are seen, indicating that spermatids elongate but do not maintain the axoneme
|
• spermatozoa do not have motile full-length flagella
|
• flagella of epididymal sperm is immotile
|
small testis
(
J:287082
)
|
nervous system
• 28% of ependymal cilia of the brain ventricles show defects in the arrangement of the axonemal microtubules, with 22% showing outer doublet microtubule dislocations in which one or two outer doublets are displaced from the correct position, 3% lacking one doublet microtubule, and 1% showing extra doublet microtubules
• however, the central pair appears intact in ependymal cilia and structures of the basal bodies and the ciliary transition zone show no defects
• however, mice do not exhibit laterality defects, polydactyly, polycystic kidney, or other abdominal organ abnormalities indicating that nodal and primary cilia are not affected
|
• some ependyma shows very short or collapsed cilia and the cilia appears erect
|
• the amplitude of ciliary beating and the beating frequency are lower
|
hydrocephaly
(
J:287082
)
• mice exhibit hydrocephalus of varying severity
• 6 of 36 mice develop hydrocephalus rapidly and die before weaning
|
• 4 of 5 mice develop ventriculomegaly without changes in the shape of the skull
|
respiratory system
• occasionally motile cilia in the tracheal epithelia exhibit ciliary membrane blebs
• however, motile cilia in the tracheal epithelia show an intact axoneme
|
endocrine/exocrine glands
small testis
(
J:287082
)
|
cellular
• 28% of ependymal cilia of the brain ventricles show defects in the arrangement of the axonemal microtubules, with 22% showing outer doublet microtubule dislocations in which one or two outer doublets are displaced from the correct position, 3% lacking one doublet microtubule, and 1% showing extra doublet microtubules
• however, the central pair appears intact in ependymal cilia and structures of the basal bodies and the ciliary transition zone show no defects
• however, mice do not exhibit laterality defects, polydactyly, polycystic kidney, or other abdominal organ abnormalities indicating that nodal and primary cilia are not affected
|
• some ependyma shows very short or collapsed cilia and the cilia appears erect
|
• occasionally motile cilia in the tracheal epithelia exhibit ciliary membrane blebs
• however, motile cilia in the tracheal epithelia show an intact axoneme
|
• all males exhibit oligo-astheno-terato-zoospermia
|
• caudal sperm density of sexually mature males is decreased significantly
|
• epididymal sperm exhibits severe morphological defects
|
• lack of fully developed sperm flagella in the lumen of the seminiferous tubules
• accessory structures such as the outer dense fibers, the fibrous sheath in the principal piece and the spiral mitochondria in the midpiece are infrequently seen and instead many abnormal vesicles are seen in the cytoplasm
|
• flagella of the spermatids undergoing cytodifferentiation often has abnormal fibrous materials resembling that of singlet microtubules, instead of the well-organized axoneme
• early-phase spermatids with round nuclei, long developing flagella with an intact axoneme without accessory structures are seen, indicating that spermatids elongate but do not maintain the axoneme
|
• spermatozoa do not have motile full-length flagella
|
• flagella of epididymal sperm is immotile
|
• the amplitude of ciliary beating and the beating frequency are lower
|