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Lmx1b Gene Detail
Summary
  • Symbol
    Lmx1b
  • Name
    LIM homeobox transcription factor 1 beta
  • Synonyms
    GENA 191, Icst, LMX1.2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1100513
    NCBI Gene: 16917
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:33450977-33530620 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 22.48 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1522 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1100513
 protein coding gene Chr2:33450977-33531219 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025635
 protein coding gene Chr2:32093181-32173947 (-)
A/J MGP_AJ_G0025612
 protein coding gene Chr2:30729695-30812036 (-)
AKR/J MGP_AKRJ_G0025582
 protein coding gene Chr2:31830525-31912303 (-)
BALB/cJ MGP_BALBcJ_G0025609
 protein coding gene Chr2:30847044-30927482 (-)
C3H/HeJ MGP_C3HHeJ_G0025369
 protein coding gene Chr2:31706990-31788950 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026053
 protein coding gene Chr2:33046121-33127589 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023462
 protein coding gene Chr2:29462650-29542004 (-)
CAST/EiJ MGP_CASTEiJ_G0024831
 protein coding gene Chr2:31684473-31771827 (-)
CBA/J MGP_CBAJ_G0025347
 protein coding gene Chr2:34321993-34415485 (-)
DBA/2J MGP_DBA2J_G0025480
 protein coding gene Chr2:30506359-30586214 (-)
FVB/NJ MGP_FVBNJ_G0025442
 protein coding gene Chr2:30395645-30475957 (-)
LP/J MGP_LPJ_G0025566
 protein coding gene Chr2:31996006-32082491 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025473
 protein coding gene Chr2:33892574-33970031 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026111
 protein coding gene Chr2:31713217-31794405 (-)
PWK/PhJ MGP_PWKPhJ_G0024579
 protein coding gene Chr2:30415359-30497073 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024379
 protein coding gene Chr2:31888122-31966214 (-)
WSB/EiJ MGP_WSBEiJ_G0024900
 protein coding gene Chr2:31890006-31971039 (-)



Homology
more
  • Human Ortholog
    LMX1B, LIM homeobox transcription factor 1 beta
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    LMX1B, LIM homeobox transcription factor 1 beta
  • Synonyms
    FSGS10, LMX1.2, NPS1
  • Links
    NCBI Gene ID: 4010
    neXtProt AC: NX_O60663
    UniProt: O60663

  • Chr Location
    9q33.3; chr9:126613928-126701032 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Lmx1b mouse models; 1 with human LMX1B associations

Human Disease Mouse Models
      
IDs
 View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    115 phenotypes from 8 alleles in 15 genetic backgrounds
    20 phenotypes from multigenic genotypes
    6 images
    90 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.
Homozygotes for a targeted null mutation exhibit various skeletal, kidney, and eye defects. Pups also fail to suckle. Heterozygous mice with a homeodomain V265D mutation exhibit a variety of eye defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    45
  • GO References
    19
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
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
    1230
  • Tissues
    282
  • cDNA Data
    18
  • Literature Summary
    242
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000038765 Ensembl Gene Model | MGI Sequence Detail 79644 C57BL/6J ±  kb
    transcript ENSMUST00000041730 Ensembl | MGI Sequence Detail 4887 Not Applicable  
    polypeptide ENSMUSP00000043616 Ensembl | MGI Sequence Detail 401 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 50
      Genomic 1
      cDNA 19
      Primer pair 9
      Other 21

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1890528
    References
    more
    • Summaries
      All 320
      Developmental Gene Expression 242
      Diseases 4
      Gene Ontology 19
      Phenotypes 90
    • Earliest
      J:43464 Matise MP, et al., Expression patterns of developmental control genes in normal and Engrailed-1 mutant mouse spinal cord reveal early diversity in developing interneurons. J Neurosci. 1997 Oct 15;17(20):7805-16
    • Latest
      J:352627 Baltar J, et al., Neph1 is required for neurite branching and is negatively regulated by the PRRXL1 homeodomain factor in the developing spinal cord dorsal horn. Neural Dev. 2024 Jul 24;19(1):13
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    10/29/2024
    MGI 6.24     		The Jackson Laboratory