Table 1.

Mouse models and phenotypes in the Hh signaling pathway.

Mutation	Onset Stage of Knockout	Hh Signaling	Phenotype	Lethality Stage	Primary Publication
Shh−/−	Global	Down	Cyclopia, probiscus-like facial features, abnormal organ formation, reduced body size	Perinatal	[51]
Shhlox/lox;NestinCre	E12.5	Down	Decrease in MGE size, defective early oligodendrogenesis, fewer proliferating neural stem cells (NSCs) in postnatal SVZ and hippocampus	N/A	[72]
Shhlox/lox;Emx1Cre	E10.5	Down	Smaller dorsal telencephalon, abnormal neuron position and NSC characteristics	N/A	[53]
Ptch−/−	Global	Up	Open and overgrown neural tube	E9-10.5	[61]
Ptch+/−	Global	Up	Partially open neural tube, hindbrain defects, overgrown cerebellum, larger body size	N/A	[61]
Ptch1lox/lox;NestinCre	E12.5	Up	Surface of neocortex is folded with varying thickness, distorted brain structures in neocortex, MGE, hippocampus, medial cortex	E15.5	[62]
Smo−/−	Global	Down	Heart defect, cyclopia, loss of Left/Right symmetry	E9.5	[70]
Smolox/lox;FoxG1Cre	E9	Down	Dorsalization of neural tube, loss of interneurons and oligodendrocytes	Perinatal	[71]
Smolox/lox;Emx1Cre	E10.5	Down	Smaller telencephalon, defects in neuronal migration, significant loss of oligodendrocytes	N/A	[53]
Smolox/lox;GFAPCre	E13.5	Down	Small brain, fewer INPs, fewer bRGCs	N/A	[44]
SmoM2 (drive by GFAPCre)	E13.5	Up	Folding of the cingulate cortex, higher number of bRGs and INPs	N/A	[44]
Sufu−/−	Global	Up	Open ventralized neural tube	E9.5	[73]
Sufu−/+	Global	Up	Normal growth, fertile, develop Gorlin-like features	N/A	[73]
Sufulox/lox;GFAPCre	E13.5	Up	No obvious phenotype, survive into adulthood, expanded VZ and SVZ	N/A	[75]
Sufulox/lox;Emx1Cre	E10.5	Up	Large cortical surface, no olfactory bulb, expanded lateral ventricles, thinner cortical layer	Death before weaning	[75]
Gli1−/−	Global	N/A	Normal, viable	N/A	[83]
Gli2−/−	Global	Down	Small lungs and fused lobes, no notochord regression, loss of pituitary, craniofacial defects	Perinatal	[83]
Gli2P1−4 (S/A mutation at four PKA sites)	Knock-in	Up	Exencephaly, partially open neural tube, extra anterior digit, enlarged facio-cranial features	Between E14.5 to birth	[5]
Xt (Spontaneous loss-of-function mutation in Gli3)	Global	Up	Dorsalized neural tube, reduced cortical size, absent hippocampus and choroid plexus	N/A	[88]
Gli3lox/lox;NestinCre	E12.5	Up	Loss of upper layer projection neurons (PNs), defects in cortical neuron specification and positioning	N/A	[92]
Shh−/−;Gli3−/−	Global knockout	N/A	91% exencephalic, relatively normal telencephalon, missing dorsal midline structure, normal pan-ventral genes such as Dlx2 Gsh2, Nkx2.1	N/A	[52]
Shh−/−;Gli3+/−	Global	Down	Partial rescue of Shh-null phenotype: two discernable eyes, reduced probiscus, partial dorsal–ventral patterning rescue	N/A	[52]
Gli1−/−;Gli3+/−	Global	Up	Viable, polydactylyl	N/A	[83]
Gli1−/−;Gli2−/−	Global	Down	Decreased viability by E18.5, loss of pituitary tissue, lung lobes defects	Perinatal	[83]
Gli1−/−;Gli2+/−	Global	Down	Some loss of ventral spinal cord, small lungs	Perinatal	[83]