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Phenotypes Associated with This Genotype
Genotype
MGI:5659959
Allelic
Composition
Wdr72tm1a(KOMP)Wtsi/Wdr72tm1a(KOMP)Wtsi
Genetic
Background
involves: C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Wdr72tm1a(KOMP)Wtsi mutation (2 available); any Wdr72 mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• enamel is opaque and darkly stained
• 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
• retain non-mineralized, organic material in the enamel matrix during maturation
• hypomineralized enamel
• thickness is normal at the base of the incisors and molar crowns but is lost on the occlusal surfaces
• beginning at P21 in males and P24 in females, probably due to difficulty in feeding on hard foods

skeleton
• enamel is opaque and darkly stained
• 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
• retain non-mineralized, organic material in the enamel matrix during maturation
• hypomineralized enamel
• thickness is normal at the base of the incisors and molar crowns but is lost on the occlusal surfaces

renal/urinary system
N
• no obvious phenotypes are seen in the kidney

nervous system
N
• no obvious phenotypes are seen in the brain

craniofacial
• enamel is opaque and darkly stained
• 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
• retain non-mineralized, organic material in the enamel matrix during maturation
• hypomineralized enamel
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory