Table 2. Functional roles for intracellular focal adhesion proteins in mouse development.
Gene | Knockout mouse phenotype |
---|---|
α-Actinin-4 |
-Die at several months of age due to glomerular disease and proteinuria91 |
FAK |
-Embryonic lethal E8.548,49 -Defect in mesodermal development48,49 -Able to implant and initiate gastrulation48,49 |
FLNA (Filamin A) |
-Embryonic lethal E13.5–14.593 -Cardiac and vascular failure, and impaired brain development93 |
ILK |
-Die shortly after implantation, E8.571,72 -Fail to form epiblast71,72 -Mice with kinase-dead ILK mutants (S343A) or kinase hyperactive ILK mutants (S343D) have no developmental or skin defects71,72 -Mice with mutation in ATP-binding site of kinase domain (K220A or K220M) die shortly after birth due to kidney defects, but have normal skin71,72 |
KIND-1 (Kindlin-1) |
-Skin atrophy84 -Intestinal dysfunction resulting in perinatal lethality84 |
KIND-2 (Kindlin-2) |
-Peri-implantation lethality at E783 -Detachment of endoderm and epiblast from basement membrane83 |
Migfilin |
-Viable, fertile and no apparent abnormalities95 |
Cas (p130Cas) |
Embryonic lethality at E11.5–12.596 -Poor development of heart and blood vessel dilation96 |
Paxillin |
-Embryonic lethality at E9.599 -Disrupted development of mesodermal structures99 |
PINCH1 |
-Embryonic lethality at E6.5 or E9.5100,101 -Disorganized egg cylinder, and significant cell death100,101 -Abnormal epiblast polarity, and impaired cavitation into basement membrane100,101 |
PINCH2 |
-Viable, fertile with no apparent phenotype102 |
Talin |
-Embryonic lethality at E8.5–9.5145 -Disorganization of embryos at gastrulation145 -Defective embryonic ectoderm145 |
Tensin |
-Normal at birth, but develop kidney abnormalities that lead to lethality106 |
Tensin-3 |
-Growth retardation and postnatal lethality in 1/3 of mice that is associated with impaired development of the intestine, lung and bone107 |
Vinculin |
-Embryonic lethality around E8–10146 -Attenuated cranial nerve, spinal nerve and heart development146 -Defective ectoderm development146 |
Zyxin | -Viable, fertile and no apparent abnormalities110 |