OMIA:002309-9646 : Cataract, MIP-related in Ailuropoda melanoleuca (giant panda) |
Categories: Vision / eye phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 615274 (trait) , 154050 (gene)
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2021
Species-specific name: Cataract
Molecular basis: Bai et al. (2021): "we used a functional candidate gene screening approach to identify mutations associated with cataracts in a captive giant panda (Ailuropoda melanoleuca). We screened 11 genes often associated with human cataracts and identified a novel missense mutation (c.686G > A) in the MIP gene encoding major intrinsic protein. ... The c.686G > A mutation was found in a captive giant panda with a unilateral cataract but not in 18 controls from diverse regions in China, suggesting it is most likely a genuine disease-associated mutation rather than a single-nucleotide polymorphism. The mutation could therefore serve as a new genetic marker to predict the risk of congenital cataracts in captive giant pandas."
Clinical features: Bai et al. (2021): "The proband in this study was Jini, a giant panda born in 1993. ... Jini’s mild cataract symptoms were first observed in 2013, and in 2017 the lesion was diagnosed as a unilateral senile (age-related) cataract following a professional examination by an ophthalmologist."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| MIP | major intrinsic protein of lens fiber | Ailuropoda melanoleuca | 15 | NC_048232.1 (33716297..33712762) | MIP | Homologene, Ensembl , NCBI gene |
Variants
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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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1287 | Cataract | MIP | missense | Naturally occurring variant | c.686G>A | p.(S229N) | 2021 | 33530927 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:002309-9646: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2021 | Bai, C., You, Y., Liu, X., Xia, M., Wang, W., Jia, T., Pu, T., Lu, Y., Zhang, C., Li, X., Yin, Y., Wang, L., Zhou, J., Niu, L. : |
| A novel missense mutation in the gene encoding major intrinsic protein (MIP) in a giant panda with unilateral cataract formation. BMC Genomics 22:100, 2021. Pubmed reference: 33530927. DOI: 10.1186/s12864-021-07386-8. |
Edit History
- Created by Imke Tammen2 on 18 Feb 2021
- Changed by Imke Tammen2 on 18 Feb 2021