FB2026_03 , released September 17, 2026
Human Disease Model Report: intellectual disability (postulated), BOD1-related
Open Close
General Information
Name
intellectual disability (postulated), BOD1-related
FlyBase ID
FBhh0000603
Disease Ontology Term
Parent Disease
OMIM
Overview

The human BOD1 gene has been identified as a candidate locus for development of intellectual disability (FBrf0232363). The BOD1 protein is required for proper chromosome bi-orientation on mitotic spindles, the process during which each sister kinetochore forms microtubule attachments to only one spindle pole. There is a single orthologous Drosophila gene, Dmel\BOD1, for which RNAi-targeting constructs have been generated. Dmel\BOD1 is orthologous to two additional human genes, BOD1L2 and BOD1L1.

A UAS construct of a tagged wild-type human Hsap\BOD1 gene has been introduced into flies and has been made available; it has not been characterized.

Neuron-specific RNAi-effected knockdown of Dmel\BOD1 causes learning deficits in adults and abnormalities in synapse morphology in third instar larvae.

[updated Apr. 2018 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: intellectual disability (postulated), BOD1-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics
Cellular phenotype and pathology

BOD1 protein is required for proper chromosome biorientation through the detection or correction of syntelic attachments in mitotic spindles. [Gene Cards, BOD1; 2017.09.08]

Molecular information
External links
Disease synonyms
Ortholog Information
Human gene(s) in FlyBase
Human gene (HGNC)
D. melanogaster ortholog (based on DIOPT)
Comments on ortholog(s)

Many to one: 3 human to 1 Drosophila; the human genes are BOD1, BOD1L2, BOD1L1.

Human gene (HGNC)
D. melanogaster ortholog (based on DIOPT)
Comments on ortholog(s)

Many to one: 3 human to 1 Drosophila; the human genes are BOD1, BOD1L2, BOD1L1.

Human gene (HGNC)
D. melanogaster ortholog (based on DIOPT)
Comments on ortholog(s)

Many to one: 3 human to 1 Drosophila; the human genes are BOD1, BOD1L2, BOD1L1.

Other mammalian ortholog(s) used
    D. melanogaster Gene Information (1)
    Molecular function (GO)
      Cellular component (GO)
      Gene Groups / Pathways
        Comments on ortholog(s)

        Moderate to low-scoring ortholog of human genes BOD1, BOD1L2, BOD1L1 (1 Drosophila to 3 human). The 3 human proteins vary significantly in length; the amino terminus of the fly gene shares 42-46% identity and 63-68% similarity with the shorter human genes, BOD1 and BOD1L2. The fly gene aligns along its entire length to the amino half of BOD1L1, with 21% identity and 34% similarity.

        Orthologs and Alignments from DRSC
        DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
        Other Genes Used: Viral, Bacterial, Synthetic (0)
          Summary of Physical Interactions (0 groups)
          Alleles Reported to Model Human Disease (Disease Ontology) (3 alleles)
          Models Based on Experimental Evidence ( 3 )
          Modifiers Based on Experimental Evidence ( 0 )
          Allele
          Disease
          Interaction
          References
          Alleles Representing Disease-Implicated Variants
          Genetic Tools, Stocks and Reagents
          Sources of Stocks
          Contact lab of origin for a reagent not available from a public stock center.
          Bloomington Stock Center Disease Page
          Related mammalian, viral, bacterial, or synthetic transgenes
          Allele
          Transgene
          Publicly Available Stocks
          Selected Drosophila transgenes
          Allele
          Transgene
          Publicly Available Stocks
          RNAi constructs available
          Allele
          Transgene
          Publicly Available Stocks
          Selected Drosophila classical alleles
          Allele
          Allele class
          Mutagen
          Publicly Available Stocks
          References (4)