Phenotypes Associated with This Genotype

Genotype
MGI:5510810

• Allelic Composition: Ift140^cauli/Ift140^cauli
• Genetic Background: involves: C3H/HeH * C57BL/6JAnu

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

Craniofacial and skeletal mutants: (A-D) Fras1^bfb, (E-G) Ift140^cauli, (H-J) knyn, and (K-M) Crkl^snoopy homozygotes

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:220659 )

• mutants begin to die at E13.5 and no live embryos are obtained after E16.5

lethality throughout fetal growth and development, incomplete penetrance ( J:199856 )

• embryonic death increases rapidly with gestational age with few mice recovered between E17.5 and E18.5

cellular

abnormal primary cilium morphology ( J:220659 )

• primary cilia of E10.5 limb buds is broader and has a bulbous appearance

• less than 20% of limb bud epithelial cells have an identifiable primary cilium compared to more than 90% in wild-type cells

digestive/alimentary system

palatal shelf hypoplasia ( J:220659 )

• hypoplastic palatal shelves at E13.5

limbs/digits/tail

abnormal limb bud morphology ( J:220659 )

• abnormal epithelial morphology in limb bud ectoderm with adherens junctions that are diffuse and dispersed in the epithelium

• epidermal ectodermal cells of limb buds have poorly defined cellular boarders

abnormal digit morphology ( J:220659 )

• proximal and distal branching of digits

forelimb oligodactyly ( J:199856 , J:220659 )

• at E13.5 in forelimb (J:199856)

• oligodactyly in about 25% of forelimbs (J:220659)

polydactyly ( J:199856 , J:220659 )

• at E13.5 in hind (almost always bilateral) and forelimb (uni- or bilateral) (J:199856)

• polydactyly in 100% of hindlimbs and 50% of forelimbs (J:220659)

curly tail ( J:220659 )

nervous system

abnormal neural tube morphology ( J:220659 )

• irregularities in the integrity of the axial neural tube at E11.5

• irregular and extremely convoluted neural tube at E12.5

abnormal neural tube closure ( J:220659 )

• caudal neural tube closure defects

spina bifida ( J:199856 )

exencephaly ( J:199856 , J:220659 )

• at E13.5 (J:199856)

• in all embryos (J:220659)

growth/size/body

abnormal mouth morphology ( J:220659 )

• gaping mouth

palatal shelf hypoplasia ( J:220659 )

• hypoplastic palatal shelves at E13.5

omphalocele ( J:220659 )

prenatal growth retardation ( J:220659 )

• developmental delay

hearing/vestibular/ear

absent tympanic ring ( J:220659 )

• absent or rudimentary

vision/eye

anophthalmia ( J:199856 , J:220659 )

• at E13.5 (J:199856)

• in all embryos (J:220659)

craniofacial

abnormal craniofacial morphology ( J:199856 , J:220659 )

• at E13.5 (J:199856)

• severe craniofacial defects in surviving E16.5 fetuses (J:220659)

abnormal exoccipital bone morphology ( J:220659 )

• the exoccipital bone is fused to the first cervical vertebra

fusion of atlas and occipital bones ( J:220659 )

• the exoccipital bone is fused to the first cervical vertebra

absent alisphenoid bone ( J:220659 )

• absent or rudimentary

absent neurocranium ( J:220659 )

• failure of calvarial development at E16.5

abnormal maxilla morphology ( J:220659 )

• maxilla and premaxilla are hypoplastic and malpositioned due to the absence of components with which they would normally articulate

absent facial bone ( J:220659 )

• agenesis or hypoplasia of many facial bones at E16.5

absent palatine bone ( J:220659 )

• absent or rudimentary

facial bone hypoplasia ( J:220659 )

• agenesis or hypoplasia of many facial bones at E16.5

premaxilla hypoplasia ( J:220659 )

maxilla hypoplasia ( J:220659 )

abnormal mouth morphology ( J:220659 )

• gaping mouth

palatal shelf hypoplasia ( J:220659 )

• hypoplastic palatal shelves at E13.5

homeostasis/metabolism

hydrops fetalis ( J:220659 )

cardiovascular system

abnormal heart looping ( J:199856 )

• in some mice

abnormal atrioventricular valve morphology ( J:220659 )

• malformed

abnormal tricuspid valve morphology ( J:220659 )

• malformed

abnormal heart ventricle morphology ( J:220659 )

• ventricular hypotrophy at E13.5

abnormal interventricular septum morphology ( J:220659 )

• irregular interventricular septum formation

heart hemorrhage ( J:220659 )

• irregular accumulation of blood within the atria and ventricles

respiratory system

abnormal lung morphology ( J:220659 )

• lungs are severely misshapen at E13.5, with a rounded appearance instead of cone-shaped lobes

skeleton

abnormal exoccipital bone morphology ( J:220659 )

• the exoccipital bone is fused to the first cervical vertebra

fusion of atlas and occipital bones ( J:220659 )

• the exoccipital bone is fused to the first cervical vertebra

absent alisphenoid bone ( J:220659 )

• absent or rudimentary

absent neurocranium ( J:220659 )

• failure of calvarial development at E16.5

abnormal maxilla morphology ( J:220659 )

• maxilla and premaxilla are hypoplastic and malpositioned due to the absence of components with which they would normally articulate

absent facial bone ( J:220659 )

• agenesis or hypoplasia of many facial bones at E16.5

absent palatine bone ( J:220659 )

• absent or rudimentary

facial bone hypoplasia ( J:220659 )

• agenesis or hypoplasia of many facial bones at E16.5

premaxilla hypoplasia ( J:220659 )

maxilla hypoplasia ( J:220659 )

abnormal costovertebral joint morphology ( J:220659 )

• abnormal costovertebral articulations (the joints between the heads of each rib and the thoracic vertebrae)

abnormal rib morphology ( J:220659 )

• severe rib defects

rib bifurcation ( J:220659 )

• lateral bifurcation (branching)

cervical vertebral fusion ( J:220659 )

• cervical vertebral fusion at E16.5

exostosis ( J:220659 )

• ribs show thickened ossified protuberances

embryo

abnormal limb bud morphology ( J:220659 )

• abnormal epithelial morphology in limb bud ectoderm with adherens junctions that are diffuse and dispersed in the epithelium

• epidermal ectodermal cells of limb buds have poorly defined cellular boarders

abnormal neural tube morphology ( J:220659 )

• irregularities in the integrity of the axial neural tube at E11.5

• irregular and extremely convoluted neural tube at E12.5

abnormal neural tube closure ( J:220659 )

• caudal neural tube closure defects

spina bifida ( J:199856 )

abnormal somite development ( J:220659 )

• somites show loss of normal patterning and are very disorganized, showing both branching and irregular distribution and a bifid appearance at E11.5

• accumulation of blood within distended and irregularly located inter-somitic vessels at E11.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
asphyxiating thoracic dystrophy 1		DOID:0110085	OMIM:208500	J:220659