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Neb
Gene Detail
 Symbol
Name
ID
Neb
nebulin
MGI:97292
Feature Type protein coding gene
Genetic Map
Chromosome 2
29.98 cM
Detailed Genetic Map ± 1 cM


Mapping data(25)
Sequence Map
Chr2:52136662-52338798 bp, - strand
From VEGA annotation of GRCm38

  202137 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:68405  Vertebrate Homology Class
1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 zebrafish

Gene Tree: Neb

Alleles
and
phenotypes
All alleles(8) : Targeted(7) Gene trapped(1)
 
Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity.
 
Human Diseases Modeled Using Mouse Neb (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(3)
Gene Ontology
(GO)
classifications
All GO classifications: (7 annotations)
Process regulation of actin filament length, sarcomere organization
Component contractile fiber, myofibril, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (2)    Tissues (2)    Images (2)
Theiler Stages: 17
Assay TypeResults
Immunohistochemistry 2
cDNA source data(16)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(19) cDNA(18) Other(1)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000012541 (Evidence)
Ensembl Gene ModelENSMUSG00000026950 (Evidence)
Entrez Gene17996 (Evidence)
DFCITC1611026, TC1612052, TC1630624, TC1631613, TC1633407, TC1644717, TC1656610, TC1666653, TC1677385, TC1695526, TC1718349, TC1776852
DoTSDT.110734536, DT.110734539, DT.110734540, DT.40135759, DT.40142727, DT.487639, DT.60117380, DT.87039250, DT.91319196, DT.91331596, DT.94277681, DT.97342549
NIA Mouse Gene IndexU001755
Consensus CDS ProjectCCDS50584.1
International Mouse Knockout Project StatusNeb
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012541 VEGA Gene Model | MGI Sequence Detail 202137 C57BL/6J ±  kb
transcript OTTMUST00000029838 VEGA | MGI Sequence Detail 21456 Not Applicable 
polypeptide OTTMUSP00000013415 VEGA | MGI Sequence Detail 6909 Not Applicable 

For the selected sequences
All sequences(150) RefSeq(58) UniProt(12)
Polymorphisms RFLP(13) : SNPs within 2kb(2260 from dbSNP Build 137)    SNPs within 2kb including multiple locations(2264)
Protein-related
information
ResourceIDDescription
InterPro IPR013998 Nebulin
InterPro IPR000900 Nebulin 35 residue motif
InterPro IPR001452 Src homology-3 domain
Protein Ontology PR:000011107 nebulin
References (Earliest) J:10476 Mock B, et al., A genetic map of mouse chromosome 1 near the Lsh-Ity-Bcg disease resistance locus. Genomics. 1990 May;7(1):57-64
(Latest) J:206854 Ottenheijm CA, et al., Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy. Brain. 2013 Jun;136(Pt 6):1718-31
All references(61)
Other
accession IDs
MGD-MRK-12801, MGI:2139011

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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last database update
04/15/2014
MGI 5.17
The Jackson Laboratory