Phenotypes Associated with This Genotype

Genotype
MGI:5503965

• Allelic Composition: Mks1^{tm1a(EUCOMM)Wtsi}/Mks1^{tm1a(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6 * C57BL/6N

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

mortality/aging

neonatal lethality, complete penetrance ( J:196290 )

• all mice die by P0

lethality throughout fetal growth and development, incomplete penetrance ( J:196290 )

nervous system

abnormal ependyma motile cilium morphology ( J:196290 )

• loss of cilia from neuroepithelium cells at E16.5

increased neuron apoptosis ( J:196290 )

• in the cerebellar hemispheres

incomplete rostral neuropore closure ( J:196290 )

abnormal brain morphology ( J:196290 )

• periventricular heterotopias

abnormal forebrain development ( J:196290 )

• reduced anteriorposterior axis

semilobar holoprosencephaly ( J:196290 )

• semilobular

hydrocephaly ( J:196290 )

• in most mice

enlarged fourth ventricle ( J:196290 )

abnormal cerebral aqueduct morphology ( J:196290 )

• downward persistence

abnormal cerebral hemisphere morphology ( J:196290 )

• poorly developed median longitudional septum separating the cereberal hemispheres

abnormal cerebral cortex morphology ( J:196290 )

• disorganized lamination without formation of clear cortical plate and diffuse cell proliferation

abnormal neocortex morphology ( J:196290 )

• thin

cerebellum vermis hypoplasia ( J:196290 )

skeleton

abnormal posterior cranial fossa morphology ( J:196290 )

• complex posterior fossa defects

abnormal fontanelle morphology ( J:196290 )

• enlarged

abnormal occipital bone morphology ( J:196290 )

• incomplete closure

micrognathia ( J:196290 )

• in 7 of 35 mice

abnormal long bone morphology ( J:196290 )

• bowed and shortened

polyphalangy ( J:196290 )

• on the first digit in the hindlimb

decreased length of long bones ( J:196290 )

cellular

abnormal cell morphology ( J:196290 )

• mouse embryonic fibroblasts exhibit fewer and shorter cilia compared with wild-type cells

abnormal ependyma motile cilium morphology ( J:196290 )

• loss of cilia from neuroepithelium cells at E16.5

abnormal renal tubule epithelial cell primary cilium morphology ( J:196290 )

• loss of cilia

increased neuron apoptosis ( J:196290 )

• in the cerebellar hemispheres

increased cell proliferation ( J:196290 )

• in the cerebellar hemispheres and neocortex

increased kidney cell proliferation ( J:196290 )

• in renal tubules at E14.5

craniofacial

abnormal posterior cranial fossa morphology ( J:196290 )

• complex posterior fossa defects

abnormal fontanelle morphology ( J:196290 )

• enlarged

abnormal occipital bone morphology ( J:196290 )

• incomplete closure

micrognathia ( J:196290 )

• in 7 of 35 mice

cleft upper lip ( J:196290 )

• in 4 of 35 mice

renal/urinary system

abnormal renal tubule epithelial cell primary cilium morphology ( J:196290 )

• loss of cilia

increased kidney cell proliferation ( J:196290 )

• in renal tubules at E14.5

kidney cyst ( J:196290 )

• from E16.5

enlarged kidney ( J:196290 )

• from E16.5

respiratory system

left pulmonary isomerism ( J:196290 )

pulmonary hypoplasia ( J:196290 )

decreased respiration ( J:196290 )

• respiratory insufficiency at birth

vision/eye

ocular hypertelorism ( J:196290 )

• in 1 of 35 mice

microphthalmia ( J:196290 )

anophthalmia ( J:196290 )

growth/size/body

enlarged heart ( J:196290 )

cleft upper lip ( J:196290 )

• in 4 of 35 mice

omphalocele ( J:196290 )

kidney cyst ( J:196290 )

• from E16.5

left pulmonary isomerism ( J:196290 )

situs inversus ( J:196290 )

enlarged kidney ( J:196290 )

• from E16.5

cardiovascular system

dextrocardia ( J:196290 )

enlarged heart ( J:196290 )

embryo

abnormal embryo turning ( J:196290 )

• in 6 of 10 mice

incomplete rostral neuropore closure ( J:196290 )

limbs/digits/tail

polyphalangy ( J:196290 )

• on the first digit in the hindlimb

preaxial polydactyly ( J:196290 )

• only on the hindlimb

liver/biliary system

liver fibrosis ( J:196290 )

homeostasis/metabolism

cyanosis ( J:196290 )

• at birth

hearing/vestibular/ear

abnormal ear morphology ( J:196290 )

• in 2 of 29 mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Meckel syndrome		DOID:0050778	OMIM:PS249000	J:196290