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Lmx1a Gene Detail
Summary
  • Symbol
    Lmx1a
  • Name
    LIM homeobox transcription factor 1 alpha
  • Synonyms
    Lmx1.1, shaker short-tail
  • Feature Type
    protein coding gene
  • IDs
    MGI:1888519
    NCBI Gene: 110648
  • Gene Overview
    MyGene.info: LMX1A
Location & Maps
more
  • Sequence Map
    Chr1:167689237-167848741 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      159505 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 75.08 cM
  • Mapping Data
    14 experiments
Homology
more
  • Human Ortholog
    LMX1A, LIM homeobox transcription factor 1 alpha
  • Vertebrate Orthologs
    9
  • Human Ortholog
    LMX1A, LIM homeobox transcription factor 1 alpha
    Orthology source: HomoloGene, HGNC
  • Synonyms
    LMX1, LMX1.1
  • Links
    NCBI Gene ID: 4009
    neXtProt AC: NX_Q8TE12

  • Chr Location
    1q24.1; chr1:165201867-165356715 (-)  GRCh38.p2

Human Diseases
less
  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    83 phenotypes from 14 alleles in 16 genetic backgrounds
    20 phenotypes from multigenic genotypes
    4 images
    45 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    22
  • Chemically induced (other)
    2
  • Spontaneous
    15
  • Targeted
    5
  • Genomic Mutations
    2 involving Lmx1a
  • Incidental Mutations
Mutations in the dreher locus produce neurological and skeletal abnormalities, inner ear defects, and belly spotting. Deafness and hypoplasia of Mullerian duct derivatives are also reported for some alleles. Homozygous null mice have fewer dopaminergic neurons.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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 OTTMUSG00000020906 VEGA Gene Model | MGI Sequence Detail 159505 C57BL/6J ±  kb
transcript OTTMUST00000049416 VEGA | MGI Sequence Detail 3200 Not Applicable  
polypeptide OTTMUSP00000022890 VEGA | MGI Sequence Detail 382 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1524 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 28
    Genomic 3
    cDNA 16
    Primer pair 3
    Other 6

    Microarray probesets 2
Other
Accession IDs
less
MGD-MRK-14613, MGD-MRK-8891, MGI:94923
References
more
  • Summaries
    All 171
    Developmental Gene Expression 123
    Diseases 1
    Gene Ontology 11
    Phenotypes 45
  • Earliest
    J:15346 FALCONER DS, et al., [Dreher, a new gene of the waltzer-shaker group in the house mouse.]. Z Indukt Abstamm Vererbungsl. 1951;84(2):71-3
  • Latest
    J:232481 Caronia-Brown G, et al., Expression and functional analysis of the Wnt/beta-catenin induced mir-135a-2 locus in embryonic forebrain development. Neural Dev. 2016;11:9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory