OMIA:002600-9986 : Amelogenesis imperfecta, FAM83H-related in Oryctolagus cuniculus
Categories: Skeleton phene (incl. short stature & teeth)
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 611927 (gene) , 130900 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2022
Species-specific description: Zhang et al. (2022): "Fam83h mutations cause human amelogenesis imperfecta (AI), an inherited disorder characterized by severe hardness defects in dental enamel. ... a large deletion of the Fam83h gene (900 bp) was generated via a dual sgRNA-directed CRISPR/Cas9 system in rabbits." This study involves genetically modified organisms (GMO).
Clinical features: Zhang et al. (2022): "Abnormal tooth mineralization and loose dentine were found in homozygous Fam83h knockout (Fam83h-/-) rabbits compared with WT rabbits. In addition, reduced hair follicle counts in dorsal skin, hair cycling dysfunction and hair shaft differentiation deficiency were observed in Fam83h-/- rabbits. Moreover, X-rays and staining of bone sections showed abnormal bending of the ulna and radius and an ulnar articular surface with insufficient trabecular bone in Fam83h-/- rabbits."
Breed: New Zealand White (Rabbit) (VBO_0001269).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|FAM83H||family with sequence similarity 83, member H||Oryctolagus cuniculus||NW_026258055.1 (20253..7729)||FAM83H||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1511||New Zealand White (Rabbit)||Amelogenesis imperfecta||FAM83H||deletion, gross (>20)||Genome-editing (CRISPR-Cas9)||large deletion of more then 900bp in exon 5||2022||36300761|
|2022||Zhang, Y., Yang, J., Yao, H., Zhang, Z., Song, Y. :|
|CRISPR/Cas9-mediated deletion of Fam83h induces defective tooth mineralization and hair development in rabbits. J Cell Mol Med 26:5670-5679, 2022. Pubmed reference: 36300761 . DOI: 10.1111/jcmm.17597.|
- Created by Imke Tammen2 on 24 Nov 2022
- Changed by Imke Tammen2 on 24 Nov 2022