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Ambn
Gene Detail
 Symbol
Name
ID
Ambn
ameloblastin
MGI:104655
Feature Type protein coding gene
Genetic Map
Chromosome 5
43.63 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr5:88456011-88468527 bp, + strand
From Ensembl annotation of GRCm38

  12517 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7625  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog

Gene Tree: Ambn

Human
homologs
Human Homolog AMBN, ameloblastin (enamel matrix protein)
NCBI Gene ID 258
neXtProt AC  NX_Q9NP70
Human Chr (Location)  4q21; chr4:70592258-70607288 (+)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(1) : Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mice lack enamel and display abnormal ameloblast and tooth morphology and an increased incidence of dental epithelium derived tumors.
 
Human Diseases Modeled Using Mouse Ambn (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(3)
Interactions
Ambn interacts with 144 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (10 annotations)
Process biomineral tissue development, cell adhesion, ...
Component extracellular region, proteinaceous extracellular matrix
Function extracellular matrix structural constituent conferring compression resistance, growth factor activity, ...
External Resources: FuncBase
Expression
Literature Summary: (26 records)
Data Summary: Results (86)    Tissues (32)    Images (20)
Theiler Stages: 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
RNA in situ 30
Northern blot 16
RT-PCR 40
cDNA source data(17)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(25) cDNA(19) Primer pair(5) Other(1)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000029288 (Evidence)
Entrez Gene11698 (Evidence)
UniGene8437
DFCITC1585473, TC1591585
DoTSDT.60117344, DT.94169515
NIA Mouse Gene IndexU005754
Consensus CDS ProjectCCDS51539.1
International Mouse Knockout Project StatusAmbn
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000029288 Ensembl Gene Model | MGI Sequence Detail 12517 C57BL/6J ±  kb
transcript ENSMUST00000031226 Ensembl | MGI Sequence Detail 1850 Not Applicable 
polypeptide ENSMUSP00000031226 Ensembl | MGI Sequence Detail 407 Not Applicable 

For the selected sequences
All sequences(20) RefSeq(4) UniProt(3)
Polymorphisms RFLP(2) : SNPs within 2kb(14 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR007798 Ameloblastin precursor
Protein Ontology PR:000003985 ameloblastin
References (Earliest) J:31459 Krebsbach PH, et al., Full-length sequence, localization, and chromosomal mapping of ameloblastin. A novel tooth-specific gene. J Biol Chem. 1996 Feb 23;271(8):4431-5
(Latest) J:203117 Li X, et al., A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome. Hum Mol Genet. 2014 Jan 1;23(1):194-208
All references(62)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-26095

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
09/16/2014
MGI 5.19
The Jackson Laboratory