Phenotypes Associated with This Genotype

Genotype
MGI:6457570

• Allelic Composition: Cfap43^em1Sono/Cfap43^em1Sono
• Genetic Background: Not Specified

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

prenatal lethality, incomplete penetrance ( J:285551 )

• fewer than the expected numbers of mice are seen, indicating some prenatal lethality

nervous system

hydrocephaly ( J:285551 )

dilated lateral ventricle ( J:285551 )

dilated third ventricle ( J:285551 )

cellular

abnormal motile cilium morphology ( J:285551 )

• cilia in the choroid plexus and epithelial cells of the lateral ventricle and trachea shows abnormal protein composition

• however, epithelial cells of the lateral ventricle, choroid plexus, and trachea show no differences from wild-type mice

abnormal respiratory motile cilium morphology ( J:285551 )

• tracheal cilia shows an abnormal axoneme of 8 or 10 + 2 peripheral microtubules

• mice exhibit compound cilia in the trachea

abnormal sperm flagellum morphology ( J:285551 )

♂ • distorted sperm flagella

reproductive system

abnormal sperm flagellum morphology ( J:285551 )

♂ • distorted sperm flagella

respiratory system

abnormal respiratory motile cilium morphology ( J:285551 )

• tracheal cilia shows an abnormal axoneme of 8 or 10 + 2 peripheral microtubules

• mice exhibit compound cilia in the trachea

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
normal pressure hydrocephalus		DOID:1572	OMIM:236690	J:285551