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Phenotypes Associated with This Genotype
Genotype
MGI:3653597
Allelic
Composition
Ilktm3Ref/Ilktm3Ref
Tg(Col2a1-cre)1Asz/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ilktm3Ref mutation (0 available); any Ilk mutation (22 available)
Tg(Col2a1-cre)1Asz mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 70% of homozygotes die within 1-2 hours of birth due to cleft palate; remainder die within 10-24 hours of birth from respiratory complications

growth/size/body
• 70% of newborns have cleft palate and die within 1-2 hours of birth
• thorax is small and narrow suggesting reduced ribcage size is reason for lung hypoplasia
• newborn mice have smaller bones of the axial, craniofacial and appendicular skeleton
• at E17.5 and at the newborn stage, conditional null embryos are 5% shorter than controls

craniofacial
• 70% of newborns have cleft palate and die within 1-2 hours of birth

skeleton
• growth plates are significantly shortened in mutants
• in newborns, size reduction is more pronounced with disorganized arrangement of columnar chondrocytes and rounding of the chondrocytes rather than the normal flattened morphology
• in newborns, size reduction is more pronounced with disorganized arrangement of columnar chondrocytes and rounding of the chondrocytes rather than the normal flattened morphology

cellular
• in culture, mutant chondrocytes show reduction of adhesion to fibronectin or collagen I by 30% or 32% respectively compared to controls
• number of cyclin-D positive nuclei is reduced by 40% in the growth plates
• chondrocyte proliferation in the growth plate is reduced by 29% in mutants

respiratory system
• remaining mutants suffer from lung hypoplasia and die due to breathing problems

digestive/alimentary system
• 70% of newborns have cleft palate and die within 1-2 hours of birth


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
03/31/2026
MGI 6.24
The Jackson Laboratory