Phenotypes Associated with This Genotype

Genotype
MGI:7608264

• Allelic Composition: Cep55^em1.1Hyli/Cep55^em1.1Hyli
• Genetic Background: involves: C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:313163 )

• mice are born at normal Mendelian ratio, but 100% die before postnatal day 2 (P2)

nervous system

abnormal embryonic neuroepithelium primary cilium morphology ( J:313163 )

• cilia in the neural tube at E9.5 are enlarged, with obvious bulges at their bases and shafts

hydrocephaly ( J:313163 )

• hydrocephalus at E18.5

abnormal brain ventricle morphology ( J:313163 )

• the third ventricle and dorsal third ventricle are merged into one large ventricle

increased brain ependyma motile cilium length ( J:313163 )

• brain choroid plexus epithelial cells exhibit abnormally elongated cilia in P0.5 pups

enlarged brain ventricles ( J:313163 )

• dilatations of the lateral ventricle, the third ventricle, and the dorsal third ventricle are seen at E14.5 and E18.5, indicating ventriculomegaly

dilated lateral ventricle ( J:313163 )

• seen at E14.5 and E18.5

abnormal choroid plexus morphology ( J:313163 )

• brain choroid plexus epithelial cells exhibit abnormally elongated cilia in P0.5 pups

dilated third ventricle ( J:313163 )

• dilatation of the third ventricle and the dorsal third ventricle at E14.5 and E18.5

abnormal dorsal striatum morphology ( J:313163 )

• severe deformations in caudate putamen are seen at E18.5

abnormal thalamus morphology ( J:313163 )

• severe deformations in the thalamus are seen at E18.5

abnormal hippocampus morphology ( J:313163 )

• brains at E18.5 exhibit a constricted hippocampus

thin cerebral cortex ( J:313163 )

• brains at E18.5 exhibit thinner cortex

small cerebellum ( J:313163 )

• mice exhibit extremely smaller cerebellum

cellular

increased brain ependyma motile cilium length ( J:313163 )

• brain choroid plexus epithelial cells exhibit abnormally elongated cilia in P0.5 pups

abnormal primary cilium morphology ( J:313163 )

• primary cilia in mouse embryo fibroblasts (MEFs) are much longer than in wild-type MEFs after serum starvation

• primary cilia of renal tubular epithelial cells are much longer

• approximately 50% of MEFs exhibit cilia formation in the presence of serum compared to less than 15% of wild-type MEFs indicating an increase in ciliation

abnormal embryonic neuroepithelium primary cilium morphology ( J:313163 )

• cilia in the neural tube at E9.5 are enlarged, with obvious bulges at their bases and shafts

increased kidney epithelial cell primary cilium length ( J:313163 )

• primary cilia of renal tubular epithelial cells are much longer

abnormal cell cycle ( J:313163 )

• MEFs exhibit an increase in ciliation and a decrease in the percentage of EdU-incorporated cells, indicating induction of G1 phase arrest

• FACS shows that MEFs mainly arrest at G0/G1 phase and do not increase the percentage of multinucleated cells

decreased cell proliferation ( J:313163 )

• mice show a 55% reduction in cell proliferation in P0.5 cerebral cortex

• however, mitosis does not appear to be aberrant in the cortex

renal/urinary system

increased kidney epithelial cell primary cilium length ( J:313163 )

• primary cilia of renal tubular epithelial cells are much longer

kidney cyst ( J:313163 )

• multiple cysts are seen at the glomeruli and rental tubules of kidneys

renal glomerulus cyst ( J:313163 )

growth/size/body

kidney cyst ( J:313163 )

• multiple cysts are seen at the glomeruli and rental tubules of kidneys

renal glomerulus cyst ( J:313163 )

embryo

abnormal embryonic neuroepithelium primary cilium morphology ( J:313163 )

• cilia in the neural tube at E9.5 are enlarged, with obvious bulges at their bases and shafts

craniofacial

craniofacial phenotype ( J:313163 )

N • face does not exhibit any remarkable abnormalities and no obvious increase in cilia number or length in facial mesenchyme

limbs/digits/tail

limbs/digits/tail phenotype ( J:313163 )

N • limbs do not exhibit any remarkable abnormalities and no obvious increase in cilia number or length in limbs

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Meckel syndrome		DOID:0050778	OMIM:PS249000	J:313163