AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout-NLS-lacZ knockin mice exhibiting failed amelogenesis and Ambn tissue-specificity.

ABSTRACT:

Background

Ameloblastin (AMBN) is a secreted matrix protein that is critical for the formation of dental enamel and is enamel-specific with respect to its essential functions. Biallelic AMBN defects cause non-syndromic autosomal recessive amelogenesis imperfecta. Homozygous Ambn mutant mice expressing an internally truncated AMBN protein deposit only a soft mineral crust on the surface of dentin.

Methods

We characterized a family with hypoplastic amelogenesis imperfecta caused by AMBN compound heterozygous mutations (c.1061T>C; p.Leu354Pro/ c.1340C>T; p.Pro447Leu). We generated and characterized Ambn knockout/NLS-lacZ (Ambn^lacZ/lacZ ) knockin mice.

Results

No AMBN protein was detected using immunohistochemistry in null mice. ß-galactosidase activity was spe

SUBMITTER: Liang T 

PROVIDER: S-EPMC6732285 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature