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(5) : Targeted(4) 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(1)    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: (5 records)
Data Summary: Results (2)    Tissues (2)    Images (2)
Theiler Stages: 17

Assay Type	Results
Immunohistochemistry	2

cDNA source data(33)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(36) cDNA(35) Other(1)
Microarray probesets(2)

Other database links

VEGA Gene Model	OTTMUSG00000012541 (Evidence)
Ensembl Gene Model	ENSMUSG00000026950 (Evidence)
Entrez Gene	17996 (Evidence)
UniGene	389247
DFCI	TC1611026, TC1612052, TC1630624, TC1631613, TC1633407, TC1644717, TC1656610, TC1666653, TC1677385, TC1695526, TC1718349, TC1776852
DoTS	DT.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 Index	U001755
Consensus CDS Project	CCDS50584.1
International Mouse Knockout Project Status	Neb

Sequences

Length	Strain/Species
genomic	OTTMUSG00000012541	VEGA Gene Model | MGI Sequence Detail	202137	C57BL/6J
transcript	OTTMUST00000029838	VEGA | MGI Sequence Detail	21456	Not Applicable
polypeptide	OTTMUSP00000013415	VEGA | MGI Sequence Detail	6909	Not Applicable

All sequences(94) RefSeq(2) UniProt(12)

Polymorphisms

RFLP(13) : SNPs(1392 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(58)

Other accession IDs

MGD-MRK-12801, MGI:2139011