Primary Identifier | MGI:88024 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 11733 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including enzyme binding activity; spectrin binding activity; and transmembrane transporter binding activity. Acts upstream of or within several processes, including erythrocyte development; multicellular organismal-level iron ion homeostasis; and porphyrin-containing compound biosynthetic process. Located in cortical cytoskeleton; membrane; and spectrin-associated cytoskeleton. Is expressed in several structures, including central nervous system; embryo mesenchyme; heart; retina; and skeletal muscle. Used to study hereditary spherocytosis type 1 and malaria. Human ortholog(s) of this gene implicated in anemia; hereditary spherocytosis; and hereditary spherocytosis type 1. Orthologous to human ANK1 (ankyrin 1). PHENOTYPE: Homozygous mutant animals are anemic, infertile, and have reduced body size. Mutant animals also exhibit jaundice, bone marrow hyperplasia, splenomegaly, hepatomegaly, enlarged lymph nodes, increased white blood cell count, and cardiac hypertrophy. [provided by MGI curators] |