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Rs1
Gene Detail
Symbol

Name
ID
Rs1
retinoschisis (X-linked, juvenile) 1 (human)
MGI:1336189
Synonyms
Rs1h, tmgc1, Xlrs1
Feature Type
protein coding gene
Genetic Map
Chromosome X
73.95 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
ChrX:160768013-160799663 bp, + strand
From VEGA annotation of GRCm38

  31651 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:279  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Rs1

Human
homologs
Human Homolog RS1, retinoschisin 1
NCBI Gene ID 6247
neXtProt AC  NX_O15537
Human Synonyms  RS, XLRS1
Human Chr (Location)  Xp22.13; chrX:18639688-18672103 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human RS1
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Chemically induced (ENU)(1) Spontaneous(1) Targeted(4)
Genomic Mutations involving Rs1 (1)
 
Hemizygous males for a targeted null X-linked mutation exhibit disrupted organization of retinal cell layers, small cyst-like structures on the inner retina, and altered electroretinographs.
 
Human Diseases Modeled Using Mouse Rs1 (1)    Alleles Annotated to Human Diseases(3)    Phenotype Images(3)
Interactions
Rs1 interacts with 409 markers (Mir1b, Mir7-1, Mir7-2, ...)
Expression
Literature Summary: (1 records)
Data Summary: Results (19)    Tissues (8)    Tissue x Stage Matrix (view)
Assay TypeResults
RT-PCR 19
cDNA source data(47)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(49) Genomic(1) cDNA(47) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000019592 (Evidence)
Ensembl Gene ModelENSMUSG00000031293 (Evidence)
Entrez Gene20147 (Evidence)
UniGene41982
DFCITC1584989
DoTSDT.87072215
NIA Mouse Gene IndexU020369
Consensus CDS ProjectCCDS30505.1
International Mouse Knockout Project StatusRs1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019592 VEGA Gene Model | MGI Sequence Detail 31651 C57BL/6J ±  kb
transcript OTTMUST00000046804 VEGA | MGI Sequence Detail 5840 Not Applicable 
polypeptide OTTMUSP00000021167 VEGA | MGI Sequence Detail 224 Not Applicable 

For the selected sequences
All sequences(33) RefSeq(2) UniProt(5)
Polymorphisms
RFLP(1) : SNPs within 2kb(60 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000421 Coagulation factor 5/8 C-terminal type domain
InterPro IPR008979 Galactose-binding domain-like
Protein Ontology PR:000014316 retinoschisin
References
(Earliest) J:53202 Reid SN, et al., The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors. Gene. 1999 Feb 18;227(2):257-66
(Latest) J:188105 Ziccardi L, et al., Loss of Retinoschisin (RS1) Cell Surface Protein in Maturing Mouse Rod Photoreceptors Elevates the Luminance Threshold for Light-Driven Translocation of Transducin But Not Arrestin. J Neurosci. 2012 Sep 19;32(38):13010-21
All references(48)
Disease annotation references (3)
Other
accession IDs
MGI:2183287

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
12/16/2014
MGI 5.20
The Jackson Laboratory