Phenotypes associated with this allele

• Allele Symbol: Ilk^tm3Ref
• Allele Name: targeted mutation 3, Reinhard Fassler
• Allele ID: MGI:3653044
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Ilk^tm3Ref/Ilk^tm3Ref	involves: 129S1/Sv * 129X1/SvJ	MGI:4397539
cn2	Ilk^tm3Ref/Ilk^tm3Ref Tg(Col2a1-cre)1Asz/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3653597

Genotype
MGI:4397539

cn1

• Allelic Composition: Ilk^tm3Ref/Ilk^tm3Ref
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

renal/urinary system

abnormal ureteric bud morphology ( J:154054 )

• in culture, ureteric bud cells treated with an adenoviral cre exhibit increased random migration velocity and distant compared with similarly treated wild-type cells

Genotype
MGI:3653597

cn2

• Allelic Composition: Ilk^tm3Ref/Ilk^tm3Ref; Tg(Col2a1-cre)1Asz/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

mortality/aging

neonatal lethality, complete penetrance ( J:110783 )

• 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

cleft palate ( J:110783 )

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

abnormal chest morphology ( J:110783 )

• thorax is small and narrow suggesting reduced ribcage size is reason for lung hypoplasia

disproportionate dwarf ( J:110783 )

• newborn mice have smaller bones of the axial, craniofacial and appendicular skeleton

decreased fetal size ( J:110783 )

• at E17.5 and at the newborn stage, conditional null embryos are 5% shorter than controls

craniofacial

cleft palate ( J:110783 )

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

skeleton

abnormal long bone hypertrophic chondrocyte zone ( J:110783 )

decreased long bone epiphyseal plate size ( J:110783 )

• 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

disorganized long bone epiphyseal plate ( J:110783 )

• 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

abnormal cell adhesion ( J:110783 )

• in culture, mutant chondrocytes show reduction of adhesion to fibronectin or collagen I by 30% or 32% respectively compared to controls

abnormal cell cycle ( J:110783 )

• number of cyclin-D positive nuclei is reduced by 40% in the growth plates

decreased cell proliferation ( J:110783 )

• chondrocyte proliferation in the growth plate is reduced by 29% in mutants

respiratory system

pulmonary hypoplasia ( J:110783 )

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

digestive/alimentary system

cleft palate ( J:110783 )

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