Phenotypes Associated with This Genotype

Genotype
MGI:5546382

• Allelic Composition: Tg(KRT14-Hmgn2)#Baam/0
• Genetic Background: Not Specified

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

craniofacial

short incisors ( J:203117 )

• shorter upper and lower incisors at P17

short lower incisors ( J:203117 )

short upper incisors ( J:203117 )

abnormal enamel morphology ( J:203117 )

• 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

short incisors ( J:203117 )

• shorter upper and lower incisors at P17

short lower incisors ( J:203117 )

short upper incisors ( J:203117 )

abnormal enamel morphology ( J:203117 )

• 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

short incisors ( J:203117 )

• shorter upper and lower incisors at P17

short lower incisors ( J:203117 )

short upper incisors ( J:203117 )

abnormal enamel morphology ( J:203117 )

• 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