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Lca5
Gene Detail
 Symbol
Name
ID
Lca5
Leber congenital amaurosis 5 (human)
MGI:1923032
Synonyms 4930431B11Rik, 5730406O13Rik, ORF64
Feature Type protein coding gene
Genetic Map
Chromosome 9
45.42 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr9:83391364-83441127 bp, - strand
From Ensembl annotation of GRCm38

  49764 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:32718  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Lca5

Human
homologs
Human Homolog LCA5, Leber congenital amaurosis 5
NCBI Gene ID 167691
neXtProt AC  NX_Q86VQ0
Human Synonyms  C6orf152
Human Chr (Location)  6q14.1; chr6:79484991-79537430 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human LCA5
Alleles
and
phenotypes
All alleles(7) : Targeted(2) Gene trapped(5)
 
Mice homozygous for a gene trapped allele exhibit retinal patches of depigmentation, lack rod and cone ERG responses to light stimuli, and show loss of ciliary intraflagellar transport function in photoreceptors leading to failure of outer segment formation and photoreceptor degeneration.
 
Human Diseases Modeled Using Mouse Lca5 (1)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process intraciliary transport, photoreceptor cell maintenance, ...
Component cell, cell projection, ...
Function protein complex binding
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (63)    Tissues (63)    Images (2)
Theiler Stages: 13, 15, 17, 20, 22, 26, 28
Assay TypeResults
RNA in situ 47
RT-PCR 16
cDNA source data(34)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(35) cDNA(34) Primer pair(1)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000032258 (Evidence)
Entrez Gene75782 (Evidence)
UniGene199698
DFCITC1580683, TC1593189, TC1651575
DoTSDT.101386969, DT.40173263, DT.60107138
NIA Mouse Gene IndexU031146
Consensus CDS ProjectCCDS23373.1, CCDS23374.1
International Mouse Knockout Project StatusLca5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000032258 Ensembl Gene Model | MGI Sequence Detail 49764 C57BL/6J ±  kb
transcript ENSMUST00000034791 Ensembl | MGI Sequence Detail 4235 Not Applicable 
polypeptide ENSMUSP00000034791 Ensembl | MGI Sequence Detail 704 Not Applicable 

For the selected sequences
All sequences(43) RefSeq(16) UniProt(5)
Polymorphisms SNPs within 2kb(132 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026684 Lebercilin
InterPro IPR026188 Lebercilin-like
Protein Ontology PR:000009696 lebercilin
References (Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:174018 Boldt K, et al., Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. J Clin Invest. 2011 Jun 1;121(6):2169-80
All references(29)
Other
accession IDs
MGI:1917763, MGI:2143270, MGI:2652694

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory