craniofacial
• shorter upper and lower incisors at P17
|
• teeth have a transparent texture and chalky white surface, indicating lack of enamel deposition and mineralization
• residual Amel protein tends to aggregate and form a patch-like enamel layer that is severely depleted with respect to both deposition and calcification compared to wild-type
• the irregular pattern of enamel formation resembles the human enamel hypoplasia seen in Axenfeld-Rieger Syndrome patients
• however, defects in the differentiation of ameloblasts in the lower incisors is not seen at P4
|
skeleton
• shorter upper and lower incisors at P17
|
• teeth have a transparent texture and chalky white surface, indicating lack of enamel deposition and mineralization
• residual Amel protein tends to aggregate and form a patch-like enamel layer that is severely depleted with respect to both deposition and calcification compared to wild-type
• the irregular pattern of enamel formation resembles the human enamel hypoplasia seen in Axenfeld-Rieger Syndrome patients
• however, defects in the differentiation of ameloblasts in the lower incisors is not seen at P4
|
growth/size/body
• shorter upper and lower incisors at P17
|
• teeth have a transparent texture and chalky white surface, indicating lack of enamel deposition and mineralization
• residual Amel protein tends to aggregate and form a patch-like enamel layer that is severely depleted with respect to both deposition and calcification compared to wild-type
• the irregular pattern of enamel formation resembles the human enamel hypoplasia seen in Axenfeld-Rieger Syndrome patients
• however, defects in the differentiation of ameloblasts in the lower incisors is not seen at P4
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Axenfeld-Rieger syndrome type 1 | DOID:0110120 |
OMIM:180500 |
J:203117 |