Phenotypes associated with this allele

• Allele Symbol: Relt^em1Jpsi
• Allele Name: endonuclease-mediated mutation 1, James P Simmer
• Allele ID: MGI:6369620
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Relt^em1Jpsi/Relt^em1Jpsi	C57BL/6-Relt^em1Jpsi	MGI:6369622

Genotype
MGI:6369622

hm1

• Allelic Composition: Relt^em1Jpsi/Relt^em1Jpsi
• Genetic Background: C57BL/6-Relt^em1Jpsi

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

craniofacial

abnormal enamel morphology ( J:279949 )

• incisor enamel is less translucent, chalkier, and has a rough surface at P14

• molar enamel is rough and bulbous at P14

• however, the enamel layer is of normal thickness

abnormal enamel mineralization ( J:279949 )

• P14 incisor enamel layer is hypomineralized

• however, the normally unmineralized empty spaces in the deep enamel near the dentino-enamel junction, where rods are forming on the initial enamel are filled with more fully mineralized enamel

growth/size/body

abnormal enamel morphology ( J:279949 )

• incisor enamel is less translucent, chalkier, and has a rough surface at P14

• molar enamel is rough and bulbous at P14

• however, the enamel layer is of normal thickness

abnormal enamel mineralization ( J:279949 )

• P14 incisor enamel layer is hypomineralized

• however, the normally unmineralized empty spaces in the deep enamel near the dentino-enamel junction, where rods are forming on the initial enamel are filled with more fully mineralized enamel

skeleton

abnormal enamel morphology ( J:279949 )

• incisor enamel is less translucent, chalkier, and has a rough surface at P14

• molar enamel is rough and bulbous at P14

• however, the enamel layer is of normal thickness

abnormal enamel mineralization ( J:279949 )

• P14 incisor enamel layer is hypomineralized

• however, the normally unmineralized empty spaces in the deep enamel near the dentino-enamel junction, where rods are forming on the initial enamel are filled with more fully mineralized enamel

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amelogenesis imperfecta type 3C		DOID:0111722	OMIM:618386	J:279949