|
| Mutant name | Gene mutated | Function of protein | Possible mechanism of NTD
| Schematic
representations of ectopic spinal neural tube
| Rate of
occurrence
of spina bifida | Phenotype and reference |
|
Fibroblast growth factor receptor 1
(knockout producing chimeras) | Fgfr1 | Growth factor receptor | Unknown (NTDs occur only in chimaeras) | | E10.5, 29.5% have spina bifida and 15% have ectopic neural tube | Spina bifida, second NT; NT in NT & kinky tail [94]
|
|
Tumour necrosis factor receptor associated factor 4
(knockout)
| Traf4 | Intracellular signaling adaptor | Unknown | No ectopic neural tube | 40% homozygous nulls have spina bifida | Spina bifida [95] |
|
Shp2
(knockout producing chimeras) | Shp2 | Tyrosine phosphatase
(dephosphorylates proteins) | Unknown (NTDs occur only in chimaeras) | | E10.5, 36% of high content chimeras have second neural tube and 59% have spina bifida
| Spina bifida, second NT [96] |
|
Axial defects
(spontaneous mutant; gene not identified) | ND | ND | ND | No ectopic neural tube
| 10% penetrance in CD1
| Spina bifida [97]
|
|
Glial cells missing-1
(knockout) | Gcm1 | Transcription factor
| Ectopic expression causes NTDs by unknown mechanism | | 25.8% transgenics have spina bifida; 100% transgenics have ectopic neural tube | Spina bifida; multiple NT [98] |
|
Vacuolated lens
(spontaneous mutant)
| ND
| ND
| Suggested failure in apposition and fusion? | | 50% of homozygous nulls show spina bifida at 12 dpc | Spina bifida [99] |
|
PAK4
(knockout) | PAK4 | Cytoskeletal organization | Target for Rho GTPase Cdc42
| | None | Double neural tube with one notochord
No spina bifida
[100]
|
|
EphA2
(knockout) | EphA2 | Adhesion and fusion? | Receptor tyrosine kinase
| | None | Kinky tail with double neural tube
No spina bifida
[101] |
|
WASP
(knockout) | WASP | Cytoskeletal organization | Formation of cell-surface projections (filopodia) required for cell movement and actin-based motility
| | None | Wavy neural tube
No spina bifida
[102]
|
|
Vinculin
(knockout)
(E10 Lethal) | Vinculin | Cytoskeletal organization | Major constituent of cell junctions (cell matrix & cell-cell) | | None
| Wavy neural tube
No spina bifida
[103] |
|
