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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cfap206em1Yxc
endonuclease-mediated mutation 1, Yunxia Cao
MGI:6771469
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cfap206em1Yxc/Cfap206em1Yxc C57BL/6-Cfap206em1Yxc MGI:7281069


Genotype
MGI:7281069
hm1
Allelic
Composition
Cfap206em1Yxc/Cfap206em1Yxc
Genetic
Background
C57BL/6-Cfap206em1Yxc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cfap206em1Yxc mutation (0 available); any Cfap206 mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• female mice are fully fertile and produce litters of normal size
• most spermatozoa exhibit a coiled or bent flagellum as the main morphological defect
• no basal body defects are observed
• abnormal distribution of the outer dense fibers (ODFs) is often observed
• TEM analysis of sperm flagella in longitudinal sections revealed a distorted axoneme
• cross-sections show various ultrastructural defects, including lack of peripheral doublets, absence of the central pair or abnormal distribution of the doublet microtubules or/and of the ODFs
• the central pair complex (CP) is often missing
• mean % of sperm with absent flagella is 8.10% versus 3.55% in wild-type controls
• mean % of sperm with coiled flagella is 27.60% versus 14.82% in wild-type controls
• mean % of sperm with bent flagella is 34.43% versus 10.37% in wild-type controls
• mean % of sperm with short flagella is 13.36% versus 3.54% in wild-type controls
• total cauda epididymal sperm count is significantly lower than in wild-type males
• cauda epididymal sperm show a significant decrease in total and progressive motility
• 8- to 12-wk-old males are completely infertile when mated with wild-type females
• however, the ratio of testes to body weight and overall morphology of male germ cells are relatively normal
• in intracytoplasmic sperm injection (ICSI) assays, the rate of 2-cell embryo formation is significantly lower than in wild-type controls (56.18% versus 91.11%, respectively)

cellular
• most spermatozoa exhibit a coiled or bent flagellum as the main morphological defect
• no basal body defects are observed
• abnormal distribution of the outer dense fibers (ODFs) is often observed
• TEM analysis of sperm flagella in longitudinal sections revealed a distorted axoneme
• cross-sections show various ultrastructural defects, including lack of peripheral doublets, absence of the central pair or abnormal distribution of the doublet microtubules or/and of the ODFs
• the central pair complex (CP) is often missing
• mean % of sperm with absent flagella is 8.10% versus 3.55% in wild-type controls
• mean % of sperm with coiled flagella is 27.60% versus 14.82% in wild-type controls
• mean % of sperm with bent flagella is 34.43% versus 10.37% in wild-type controls
• mean % of sperm with short flagella is 13.36% versus 3.54% in wild-type controls
• total cauda epididymal sperm count is significantly lower than in wild-type males
• cauda epididymal sperm show a significant decrease in total and progressive motility

embryo
• after intracytoplasmic sperm injection (ICSI), a significantly lower rate of 2-cell embryos (56.18% versus 91.11%) and blastocyst formation (7% versus 31.7%, respectively) is observed relative to wild-type controls

nervous system
N
• hydrocephaly is NOT observed





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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
12/10/2024
MGI 6.24
The Jackson Laboratory