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Ammecr1 Gene Detail
Summary
  • Symbol
    Ammecr1
  • Name
    Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
  • Synonyms
    6230420G18Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1860206
    NCBI Gene: 56068
Location & Maps
more
  • Sequence Map
    ChrX:142851146-142966728 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      115583 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 63.74 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    AMMECR1, Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    AMMECR1, Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
    Orthology source: HomoloGene
  • Synonyms
    AMMERC1
  • Links
    NCBI Gene ID: 9949
    neXtProt AC: NX_Q9Y4X0

  • Chr Location
    Xq22.3; chrX:110194186-110440233 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    5 images
    7 phenotype references
  • All Mutations and Alleles
    4
  • Gene trapped
    2
  • Targeted
    2
  • Incidental Mutations
Male chimeras hemizygous for a gene trapped allele appear normal at E9.5.
Gene Ontology
(GO)
Classifications
less
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018861 VEGA Gene Model | MGI Sequence Detail 115583 C57BL/6J ±  kb
transcript OTTMUST00000045376 VEGA | MGI Sequence Detail 5437 Not Applicable  
polypeptide OTTMUSP00000020416 VEGA | MGI Sequence Detail 344 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    598 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 27
    Genomic 1
    cDNA 24
    Other 2

    Microarray probesets 2
Other
Accession IDs
less
MGI:1923390
References
more
  • Summaries
    All 25
    Developmental Gene Expression 1
    Phenotypes 7
  • Earliest
    J:62787 Vitelli F, et al., Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3. Cytogenet Cell Genet. 2000;88(3-4):259-63
  • Latest
    J:163340 Cox BJ, et al., Phenotypic annotation of the mouse X chromosome. Genome Res. 2010 Aug;20(8):1154-64

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory