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

Tian Liang | Yuanyuan Hu | Charles E Smith | Amelia S Richardson | Hong Zhang | Jie Yang | Brent Lin | Shih-Kai Wang | Jung-Wook Kim | Yong-Hee Chun | James P Simmer | Jan C-C Hu
Molecular genetics & genomic medicine | 2019

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.

Pubmed ID: 31402633

Research resources used in this publication

None found

Antibodies used in this publication

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Associated grants

  • Agency: NIDCR NIH HHS, United States
    Id: R01 DE026769
  • Agency: NIDCR NIH HHS, United States
    Id: R21 DE025758
  • Agency: NIDCR NIH HHS, United States
    Id: R01 DE015846

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Abcam (tool)

RRID:SCR_012931

A commercial antibody supplier which supplies primary and secondary antibodies, biochemicals, proteins, peptides, lysates, immunoassays and other kits.

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C57BL/6J (tool)

RRID:IMSR_JAX:000664

Mus musculus with name C57BL/6J from IMSR.

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NeuroD/lacZ Knock-In (BX129-Neurod1tmAK71(lacZ)Jle/Mmcd) (tool)

RRID:BCBC_181

Homozygous phenotype: Postnatal lethal due to neonatal diabetes Pancreas--5% insulin production, no islet formation Gut--no CCK or secretin production Inner ear defects resulting in deafness--no cochlear ganglia and poor vestibular ganglia formation Cerebellar defect resulting in ataxia-- >90% depletion of cerebellar granule cells Hippocampal defects--no dentate gyrus.

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