mortality/aging
• some pups die before 4 weeks of age due to hydrocephalus
|
craniofacial
• in mice with hydrocephaly
|
nervous system
• ependymal cilia show disruption of exoneme structures
|
• sparse ependymal cilia in the ependymal epithelium
|
hydrocephaly
(
J:338031
)
• some pups die due to hydrocephalus
• hydrocephalus is characterized by enlarged dome-shaped skulls and enlargement of the brain ventricles
|
• in mice with hydrocephaly
|
reproductive system
• flagella of remaining immotile spermatozoa show loss of the outer dense fibers that are associated with the missing peripheral doublet microtubules 4-7
|
• the few remaining immotile spermatozoa in the cauda epididymis exhibit axoneme malformations; flagella exhibit missing peripheral doublet microtubules 4-7 with a concomitant loss of the associated outer dense fibers
• analysis of flagella formation during early stage of spermiogenesis indicates that microtubule-based axoneme structure formation is either blocked or seriously defective in round spermatids
• the formation rate of flagellar axonemes is lower in spermatids; axoneme structures are rarely seen in spermatids and the mitochondria exhibit a dispersed cytoplasmic distribution; the rare axoneme structures that are seem exhibit severe deformation of the 9+2 axoneme
|
• spermatozoa are malformed with short and coiled flagella
|
• spermatozoa are malformed with short and coiled flagella
|
• sperm count in cauda epididymis is decreased, with only a few spermatozoa detected
|
• total motility of sperm is decreased
|
• males are completely infertile, with no pups born from males during a 2-month fertility test
• infertility of males is recovered by intracytoplasmic sperm injection (ICSI) and healthy offspring can be obtained using spermatozoa from mutant mice, however the rates of two-cell embryos and blastocyts are reduced upon ICSI treatment
|
skeleton
• in mice with hydrocephaly
|
cellular
• ependymal cilia show disruption of exoneme structures
|
• sparse ependymal cilia in the ependymal epithelium
|
• flagella of remaining immotile spermatozoa show loss of the outer dense fibers that are associated with the missing peripheral doublet microtubules 4-7
|
• the few remaining immotile spermatozoa in the cauda epididymis exhibit axoneme malformations; flagella exhibit missing peripheral doublet microtubules 4-7 with a concomitant loss of the associated outer dense fibers
• analysis of flagella formation during early stage of spermiogenesis indicates that microtubule-based axoneme structure formation is either blocked or seriously defective in round spermatids
• the formation rate of flagellar axonemes is lower in spermatids; axoneme structures are rarely seen in spermatids and the mitochondria exhibit a dispersed cytoplasmic distribution; the rare axoneme structures that are seem exhibit severe deformation of the 9+2 axoneme
|
• spermatozoa are malformed with short and coiled flagella
|
• spermatozoa are malformed with short and coiled flagella
|
• sperm count in cauda epididymis is decreased, with only a few spermatozoa detected
|
• total motility of sperm is decreased
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
oligoasthenoteratozoospermia | DOID:0070311 | J:338031 |