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Phenotypes Associated with This Genotype
Genotype
MGI:5510810
Allelic
Composition
Ift140cauli/Ift140cauli
Genetic
Background
involves: C3H/HeH * C57BL/6JAnu
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift140cauli mutation (1 available); any Ift140 mutation (49 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Craniofacial and skeletal mutants: (A-D) Fras1bfb, (E-G) Ift140cauli, (H-J) knyn, and (K-M) Crklsnoop homozygotes

mortality/aging
• mutants begin to die at E13.5 and no live embryos are obtained after E16.5
• embryonic death increases rapidly with gestational age with few mice recovered between E17.5 and E18.5

cellular
• 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
• hypoplastic palatal shelves at E13.5

limbs/digits/tail
• 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
• proximal and distal branching of digits
• at E13.5 in forelimb (J:199856)
• oligodactyly in about 25% of forelimbs (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)

nervous system
• irregularities in the integrity of the axial neural tube at E11.5
• irregular and extremely convoluted neural tube at E12.5
• caudal neural tube closure defects
• at E13.5 (J:199856)
• in all embryos (J:220659)

growth/size/body
• gaping mouth
• hypoplastic palatal shelves at E13.5
• developmental delay

hearing/vestibular/ear
• absent or rudimentary

vision/eye
• at E13.5 (J:199856)
• in all embryos (J:220659)

craniofacial
• at E13.5 (J:199856)
• severe craniofacial defects in surviving E16.5 fetuses (J:220659)
• the exoccipital bone is fused to the first cervical vertebra
• the exoccipital bone is fused to the first cervical vertebra
• absent or rudimentary
• failure of calvarial development at E16.5
• maxilla and premaxilla are hypoplastic and malpositioned due to the absence of components with which they would normally articulate
• agenesis or hypoplasia of many facial bones at E16.5
• absent or rudimentary
• agenesis or hypoplasia of many facial bones at E16.5
• gaping mouth
• hypoplastic palatal shelves at E13.5

homeostasis/metabolism

cardiovascular system
• in some mice
• ventricular hypotrophy at E13.5
• irregular interventricular septum formation
• irregular accumulation of blood within the atria and ventricles

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

skeleton
• the exoccipital bone is fused to the first cervical vertebra
• the exoccipital bone is fused to the first cervical vertebra
• absent or rudimentary
• failure of calvarial development at E16.5
• maxilla and premaxilla are hypoplastic and malpositioned due to the absence of components with which they would normally articulate
• agenesis or hypoplasia of many facial bones at E16.5
• absent or rudimentary
• agenesis or hypoplasia of many facial bones at E16.5
• abnormal costovertebral articulations (the joints between the heads of each rib and the thoracic vertebrae)
• severe rib defects
• lateral bifurcation (branching)
• cervical vertebral fusion at E16.5
• ribs show thickened ossified protuberances

embryo
• 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
• irregularities in the integrity of the axial neural tube at E11.5
• irregular and extremely convoluted neural tube at E12.5
• caudal neural tube closure defects
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/09/2022
MGI 6.21
The Jackson Laboratory