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Phenotypes Associated with This Genotype
Genotype
MGI:7587853
Allelic
Composition
Cfap70em1Chnsr/Cfap70em1Chnsr
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cfap70em1Chnsr mutation (0 available); any Cfap70 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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
• 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


Contributing Projects:
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
12/10/2024
MGI 6.24
The Jackson Laboratory