Phenotypes associated with this allele

• Allele Symbol: Mks1^{tm1a(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4433029
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mks1^tm1a(EUCOMM)Wtsi/Mks1^tm1a(EUCOMM)Wtsi	involves: C57BL/6 * C57BL/6N	MGI:5503965
hm2	Mks1^tm1a(EUCOMM)Wtsi/Mks1^tm1a(EUCOMM)Wtsi	involves: C57BL/6N	MGI:5544029
ht3	Mks1^tm1a(EUCOMM)Wtsi/Mks1^+	B6JTyr;B6N-Mks1^tm1a(EUCOMM)Wtsi/Wtsi	MGI:5781670

Genotype
MGI:5503965

hm1

• 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

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

neonatal lethality, complete penetrance ( J:196290 )

• all mice die by P0

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

Genotype
MGI:5544029

hm2

• Allelic Composition: Mks1^{tm1a(EUCOMM)Wtsi}/Mks1^{tm1a(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6N
• Cell Lines: EPD0143_4_A03

homeostasis/metabolism

edema ( J:200082 )

• in 6 of 9 mice at E14.5

limbs/digits/tail

polydactyly ( J:200082 )

• in 6 of 9 mice at E14.5

vision/eye

abnormal eye morphology ( J:200082 )

• in 6 of 9 mice at E14.5

Genotype
MGI:5781670

ht3

• Allelic Composition: Mks1^{tm1a(EUCOMM)Wtsi}/Mks1⁺
• Genetic Background: B6JTyr;B6N-Mks1^{tm1a(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0143_4_A03

Data Sources

IMPC Data for Mks1

integument

abnormal nail morphology ( J:175295 )

♀

IMPC - WTSI