Spherocytosis
Phenotype Details
- Phene ID
- 2129
- Name
- Spherocytosis
- Phene Name
- BAND3 deficiency
- OMIA ID
- 1228
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 1996
Linked Genes
| Symbol | Gene ID | Chromosome | Description |
|---|---|---|---|
| SLC4A1 | 286817 | 19 | solute carrier family 4 (anion exchanger), member 1 (Diego blood group) |
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 303 | Spherocytosis | 286817 | 1 | 19 | NC_037346.1:g.44069903G>A | NM_181036.2:c.1990C>T | NP_851379.1:p.(R664*) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Japanese Black, Japan (Cattle) | 31 | 9913 | http://purl.obolibrary.org/obo/VBO_0004987 |
Molecular Genetics
By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Inaba et al. (1996) showed in a population of Japanese Black cattle, that this disorder is due to a nonsense mutation (CGA>TGA; Arg>Stop) in the gene for band 3 of red cell membrane, at the position corresponding to codon 646 of the human gene. The lack of this protein produces very unstable red-cell membranes, resulting in anaemia and retarded growth.