Phenotypes associated with this allele

• Allele Symbol: Tmem216^em1Cya
• Allele Name: endonuclease-mediated mutation 1, Cyagen Biosciences
• Allele ID: MGI:7587156
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tmem216^em1Cya/Tmem216^em1Cya	involves: C57BL/6J	MGI:7611792

Genotype
MGI:7611792

hm1

• Allelic Composition: Tmem216^em1Cya/Tmem216^em1Cya
• Genetic Background: involves: C57BL/6J

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

mortality/aging

postnatal lethality, complete penetrance ( J:345410 )

• no homozygous mice are found at 2 weeks of age

• homozygous embryos are present at up to E17.5 (19 of 121, 15.7%)

cellular

abnormal cilium morphology ( J:345410 )

• in culture, MEFs following serum starved or treatment with cytochalasin D the percentage of ciliated cells is reduced and cilia are shorter than on similarly treated control cells

abnormal kidney epithelial cell primary cilium morphology ( J:345410 )

• short with abnormal morphology

decreased kidney epithelial cell primary cilium length ( J:345410 )

abnormal cell cycle ( J:345410 )

• following serum starvation a higher percentage of cells are in S and G2-M phases

renal/urinary system

abnormal kidney epithelial cell primary cilium morphology ( J:345410 )

• short with abnormal morphology

decreased kidney epithelial cell primary cilium length ( J:345410 )

polycystic kidney ( J:345410 )

growth/size/body

cleft palate ( J:345410 )

omphalocele ( J:345410 )

polycystic kidney ( J:345410 )

prenatal growth retardation ( J:345410 )

• slow growth

cardiovascular system

abnormal blood vessel morphology ( J:345410 )

• blood vessel defects

skeleton

micrognathia ( J:345410 )

split sternum ( J:345410 )

vision/eye

abnormal lens development ( J:345410 )

• impaired lens development

anophthalmia ( J:345410 )

• bilateral

limbs/digits/tail

postaxial polydactyly ( J:345410 )

• postaxial hexadactyly of the fingers

digestive/alimentary system

cleft palate ( J:345410 )

craniofacial

micrognathia ( J:345410 )

cleft palate ( J:345410 )