OMIA:002682-9615 : Elliptocytosis, EPB41-related in Canis lupus familiaris (dog)

Categories: Haematopoietic system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 611804 (trait) , 130500 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Key variant is published: no

Inheritance: The affected dog is a crossbred male and the offspring from a father- daughter mating (Smith et al. 1983).

Molecular basis: Conboy et al. (1999) investigated the cause of canine hereditary elliptocytosis (HE) in a dog initially reported by Smith et al. (1983) "in which the abnormal phenotype is caused by failure to express this alternative peptide in the mature red blood cell (RBC) membrane skeleton, in conjunction with quantitative deficiency of protein 4.1. Western blotting of RBC membranes from a dog with HE showed a truncated protein 4.1 that did not react with antibodies directed against the alternative peptide. In addition, sequencing of cloned reticulocyte protein 4.1 [EPB41] cDNA showed a precise deletion of 63 nucleotides comprising this exon. Normal dog reticulocytes did express this exon." The underlying genomic variant has not been identified.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
EPB41 erythrocyte membrane protein band 4.1 Canis lupus familiaris 2 NC_051806.1 (72232624..72034545) EPB41 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002682-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

1999 Mills, J.N., Marsden, C.A. :
Presumed hereditary elliptocytosis in a dog Australian Veterinary Journal 77:651-652, 1999. Pubmed reference: 10590790.
1991 Conboy, J.G., Shitamoto, R., Parra, M., Winardi, R., Kabra, A., Smith, J., Mohandas, N. :
Hereditary elliptocytosis due to both qualitative and quantitative defects in membrane skeletal protein 4.1. Blood 78:2438-43, 1991. Pubmed reference: 1932756.
1983 Smith, J.E., Moore, K., Arens, M., Rinderknecht, G.A., Ledet, A. :
Hereditary elliptocytosis with protein band 4.1 deficiency in the dog. Blood 61:373-7, 1983. Pubmed reference: 6821703.

Edit History


  • Created by Imke Tammen2 on 02 May 2023
  • Changed by Imke Tammen2 on 02 May 2023