Biomedical Engineering Reference
In-Depth Information
Vangl2 (Loop-tail mutant) phenotype
Heterozygote
- Looped, kinked tail
- Imperforate vagina
- Enlargement and deformity of lateral brain ventricles
- Wobbly head movements
- Delayed neural tube closure (remains open at 8-9 somite stage)
Strong and Hollander (1949)
Strong and Hollander (1949)
Wilson and Center (1977)
van Abeelen and Raven (1968)
Wang, Hamblet, et al. (2006)
Homozygote
b
- Neural tube defects: craniorachischisis (Lp
D255E
and Lp
S464N
alleles) or spina bifida (hypomorphic Lp
R259L
allele)
Strong and Hollander (1949)
Guyot et al. (2011)
Kibar, Vogan, et al. (2001)
Murdoch et al. (2003)
Strong and Hollander (1949)
-
Abnormal embryo turning
Smith and Stein (1962)
- Open eye leads
- PCP defects of hair cell stereociliary bundles in organ of Corti
- Reduced size and abnormal morphology of cochlea
Kibar, Vogan, et al. (2001)
Montcouquiol et al. (2003)
Torban et al. (2008)
- Cardiac defects: abnormal heart looping (E8-E10.5), double outlet right
ventricle, ventricular septal defect
Henderson et al. (2001)
- Optic nerve pathfinding defects
Rachel, Murdoch, Beermann, Copp, and Mason
(2000)
-
Facial branchiomotor neuron migration defects
Glasco et al. (2012)
- Cortical neuronal differentiation defects
Lake and Sokol (2009)
