Phenotypes Associated with This Genotype

Genotype
MGI:5659959

• Allelic Composition: Wdr72^{tm1a(KOMP)Wtsi}/Wdr72^{tm1a(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6N

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

growth/size/body

abnormal enamel morphology ( J:215636 )

• enamel is opaque and darkly stained

abnormal ameloblast morphology ( J:215636 )

• shortened maturation-stage ameloblasts, but morphologically normal secretory ameloblasts

• reduction in intracellular amelogenin protein levels in early maturation stage ameloblasts with amelogenin absent by mid-maturation

abnormal enamel mineralization ( J:215636 )

• retain non-mineralized, organic material in the enamel matrix during maturation

• hypomineralized enamel

reduced enamel thickness ( J:215636 )

• thickness is normal at the base of the incisors and molar crowns but is lost on the occlusal surfaces

decreased body weight ( J:215636 )

• beginning at P21 in males and P24 in females, probably due to difficulty in feeding on hard foods

skeleton

abnormal enamel morphology ( J:215636 )

• enamel is opaque and darkly stained

abnormal ameloblast morphology ( J:215636 )

• shortened maturation-stage ameloblasts, but morphologically normal secretory ameloblasts

• reduction in intracellular amelogenin protein levels in early maturation stage ameloblasts with amelogenin absent by mid-maturation

abnormal enamel mineralization ( J:215636 )

• retain non-mineralized, organic material in the enamel matrix during maturation

• hypomineralized enamel

reduced enamel thickness ( J:215636 )

• thickness is normal at the base of the incisors and molar crowns but is lost on the occlusal surfaces

renal/urinary system

renal/urinary system phenotype ( J:215636 )

N • no obvious phenotypes are seen in the kidney

nervous system

nervous system phenotype ( J:215636 )

N • no obvious phenotypes are seen in the brain

craniofacial

abnormal enamel morphology ( J:215636 )

• enamel is opaque and darkly stained

abnormal ameloblast morphology ( J:215636 )

• shortened maturation-stage ameloblasts, but morphologically normal secretory ameloblasts

• reduction in intracellular amelogenin protein levels in early maturation stage ameloblasts with amelogenin absent by mid-maturation

abnormal enamel mineralization ( J:215636 )

• retain non-mineralized, organic material in the enamel matrix during maturation

• hypomineralized enamel

reduced enamel thickness ( J:215636 )

• thickness is normal at the base of the incisors and molar crowns but is lost on the occlusal surfaces

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amelogenesis imperfecta hypomaturation type 2A3		DOID:0110061	OMIM:613211	J:215636