ZFIN ID: ZDB-GENE-001031-1
Gene Name: paired box 6b
Gene Symbol: pax6b    Nomenclature History

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Previous Names: Pax6.2, cb566 (1), fc09c10, id:ibd5095 (1), sri(l), wu:fc09c10 (1), wu:fc33g08

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 7 Mapping Details/Browsers
Description: Exhibits DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in animal organ development; anterior/posterior pattern specification; and positive regulation of transcription by RNA polymerase II. Predicted to localize to nucleus. Is expressed in several structures, including anterior neural keel; endocrine system; immature eye; nervous system; and neural plate. Human ortholog(s) of this gene implicated in bilateral optic nerve hypoplasia; eye disease (multiple); glucose intolerance; and paranoid schizophrenia. Orthologous to human PAX6 (paired box 6).
Genome Resources: Alliance (1),  Gene:60639 (1),  Ensembl(GRCz11):ENSDARG00000045936 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
la010682Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • la029282Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa86 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa9552 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa11497 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa13392 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa15822 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa20883 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • tq253a Point Mutation Unknown Missense ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-pax6b N/A 5
    MO2-pax6b N/A 3
    MO3-pax6b N/A 2
    MO4-pax6b N/A 1
    MO5-pax6b N/A 2
    MO6-pax6b N/A 1
    MO7-pax6b N/A 1
    MO8-pax6b N/A 1
    DISEASE ASSOCIATED WITH pax6b HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    aniridia Alliance Aniridia 106210
    Cataract with late-onset corneal dystrophy 106210
    anterior segment dysgenesis 5 Alliance Anterior segment dysgenesis 5, multiple subtypes 604229
    autosomal dominant keratitis Alliance Keratitis 148190
    bilateral optic nerve hypoplasia Alliance Optic nerve hypoplasia 165550
    coloboma Alliance ?Coloboma, ocular 120200
    coloboma of optic nerve Alliance ?Coloboma of optic nerve 120430
    ?Morning glory disc anomaly 120430
    Peters anomaly Alliance Anterior segment dysgenesis 5, multiple subtypes 604229
    Foveal hypoplasia 1 136520
    DISEASE ASSOCIATED WITH pax6b VIA EXPERIMENTAL MODELS No data available
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA pax6b-202 (1)    Ensembl 4993
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab2-pax6 polyclonal Rabbit IHC 2
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM pax6b
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    Tg(pax6a-gata2a:mCherry,pax6b-gata2a:GFP) gata2apax6apax6b GFPmCherry Danio rerio 1 3
    Tg(pax6b-gata2a:EGFP) gata2apax6b EGFP Danio rerio 1 2
    Tg(pax6b:DsRed) pax6b DsRed Danio rerio 1 4
    Tg(pax6b:GFP) pax6b GFP Danio rerio 1 18
    MARKER RELATIONSHIPS
    pax6b Contained in: [BAC] DKEY-157G7 (1) (order this)
    pax6b Contains: [SNP] rs3728027 (1), rs3728028 (1)
    pax6b Encodes: [EST] cb566 (1) (order this), fc09c10, fc33g08, ibd5095
    [cDNA] MGC:92546 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_131641 (1) 1733 nt
    Genomic GenBank:BX000453 (1) 163585 nt
    Select Tool
    Polypeptide UniProtKB:A0A0R4IQL7 (1) 450 aa
    Sequence Information (all 38)
    ORTHOLOGY for pax6b ( Chr: 7 )
    CITATIONS (127)