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Ptch1 Gene Detail
 Symbol
Name
ID
Ptch1
patched homolog 1
MGI:105373

Nomenclature History
Synonyms A230106A15Rik, Patched 1, Ptc, Ptc1
Genetic Map
Chromosome 13
36.0 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 17)

Sequence Map
Chr13:63612841-63666828 bp, - strand
(From NCBI annotation of NCBI Build 37)
Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; cattle; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Ptch1 ± 2 cM)
Protein SuperFamily: Drosophila membrane protein patched
TreeFam: TF106489
Sequences
Representative Sequences Length Strain/Species Flank
genomic 19206 NCBI Gene Model | MGI Sequence Detail 53988 C57BL/6J ± Kb
transcript NM_008957 RefSeq | MGI Sequence Detail 4305 C57BL/6
polypeptide Q61115 UniProt | EBI | MGI Sequence Detail 1434 Not Applicable
For the selected sequences
All sequences(43)
Alleles
and
phenotypes 		All alleles(39) : Targeted, knock-out(5) Targeted, other(4) Gene trapped(29) Spontaneous(1)
Homozygous null embryos die by day 10 with neural tube defects. Heterozygotes are large with excess cerebellar granule cell proliferation and sometimes, hindlimb defects and medulloblastomas. Hypomorphic and spontaneous mutants have reproductive defects.
Associated Human Diseases (2)   Alleles Annotated to Human Diseases (2)  
Polymorphisms SNPs within 2kb(221 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications: (31 annotations)
Process dorsal/ventral neural tube patterning, dorsal/ventral pattern formation...
Component integral to membrane, integral to plasma membrane...
Function hedgehog receptor activity, receptor activity...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression Literature Summary: (399 records)
Data Summary: Assays (61)    Results (377)    Tissues (194)    Images (127)
Theiler Stages: 10,11,12,13,14,15,17,18,19,20,21,22,23,24,25,26,28
  Assay Type Assays   Results
      RT-PCR 7   30
      In situ reporter (knock in) 3   12
      RNA in situ 47   306
      Northern blot 4   29
cDNA source data(41)
External Resources: Allen Brain Atlas  GENSAT  GEO  ArrayExpress 
Molecular
reagents 		All nucleic(73) Genomic(5) cDNA(44) Primer pair(8) Other(16)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000021466
DoTS DT.103566059, DT.110965325, DT.110965343, DT.94180605, DT.97388837
Consensus CDS Project CCDS26592.1
DFCI TC1601646, TC1609206, TC1777265
NIA Mouse Gene Index U034899
Entrez Gene 19206
International Mouse Knockout Project Status Ptch1
Protein
domains
InterPro ID Description
IPR000731 Sterol-sensing 5TM box
IPR003392 Patched
IPR004766 Transmembrane receptor, patched
Graphical View of Protein Domain Structure
References
(Earliest) J:23861 Sweet HO et al., "Mesenchymal dysplasia (mes)" Mouse News Lett 1988;81():70
(Latest) J:155889 Lin AC et al., "Modulating hedgehog signaling can attenuate the severity of osteoarthritis." Nat Med 2009 Dec;15(12):1421-5
All references(537)
Other
accession IDs 		MGD-MRK-12200, MGD-MRK-33042, MGI:1924464, MGI:96966
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
02/06/2010
MGI_4.32
Web browser compatibility 		The Jackson Laboratory