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Eya1 Gene Detail
 Symbol
Name
ID
Eya1
eyes absent 1 homolog (Drosophila)
MGI:109344


Nomenclature History
Synonyms bor
Genetic Map
Chromosome 1
10.4 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 5)

Sequence Map
Chr1:14159039-14300280 bp, - strand
(From NCBI annotation of NCBI Build 37)
Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; cattle; dog, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Eya1 ± 2 cM)
Protein SuperFamily: eyes absent protein
TreeFam: TF319337
Sequences
Representative Sequences Length Strain/Species Flank
genomic 14048 NCBI Gene Model | MGI Sequence Detail 141242 C57BL/6J ± Kb
transcript NM_010164 RefSeq | MGI Sequence Detail 4354 C57BL/6
polypeptide P97767 UniProt | EBI | MGI Sequence Detail 591 Not Applicable
For the selected sequences
All sequences(28)
Alleles
and
phenotypes
All alleles(6) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(3) Spontaneous(1)
Mutations in this locus affect inner ear morphology and hearing, and result in dysmorphic or absent kidneys. Hypomorphs are deaf and circle. Null homozygotes additionally show agenesis of thymus and parathyroid and thyroid hypoplasia.
Associated Human Diseases (1)   Alleles Annotated to Human Diseases (2)  
Polymorphisms RFLP(1) SNPs within 2kb(827 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(33)
Process anatomical structure development, branching involved in ureteric bud morphogenesis...
Component cytoplasm, nucleus...
Function catalytic activity, hydrolase activity...
External Resources: MouseFunc
Expression Literature Summary: (50 records)
Data Summary: Assays (9)    Results (21)    Tissues (12)    Images (14)
Theiler Stages: 17,18,19,20,21
  Assay Type Assays   Results
      RT-PCR 1   1
      RNA in situ 8   20
cDNA source data(29)
External Resources: Allen Brain Atlas  GEO 
Molecular
reagents
All nucleic(37) Genomic(1) cDNA(30) Primer pair(2) Other(4)
Microarray probesets(2)
Other database
links
EC 3.1.3.48
Ensembl Gene Model ENSMUSG00000025932
DoTS DT.101183762, DT.40142968, DT.91577124, DT.99848649
UniGene 250185
DFCI TC1583801, TC1592036, TC1596703, TC1700179
NIA Mouse Gene Index U021132
Entrez Gene 14048
International Mouse Knockout Project Status Eya1
Protein
domains
InterPro ID Description
IPR005834 Haloacid dehalogenase-like hydrolase
IPR006545 EYA
Graphical View of Protein Domain Structure
References
(Earliest) J:38379 Xu PX et al., "Mouse Eya homologues of the Drosophila eyes absent gene require Pax6 for expression in lens and nasal placode." Development 1997 Jan;124(1):219-31
(Latest) J:153202 Gerber SD et al., "The murine Fgfrl1 receptor is essential for the development of the metanephric kidney." Dev Biol 2009 Nov 1;335(1):106-19
All references(62)
Other
accession IDs
MGD-MRK-38389, MGI:1891212

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/20/2009
MGI_4.31
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The Jackson Laboratory