Categories: Haematopoietic system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 611804 (trait) , 130500 (gene)

Links to MONDO diseases:

• MONDO:0012731: elliptocytosis 1

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.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene: