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Lmx1b Gene Detail
Summary
  • Symbol
    Lmx1b
  • Name
    LIM homeobox transcription factor 1 beta
  • Synonyms
    GENA 191, Icst, LMX1.2
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
    19
  • 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 ENSMUSG00200044829
 protein coding gene Chr2:30423461-30503112 (-)
A/J ENSMUSG00195037812
 protein coding gene Chr2:30526743-30606390 (-)
AKR/J ENSMUSG00220040291
 protein coding gene Chr2:30644692-30724323 (-)
BALB/cJ ENSMUSG00180048383
 protein coding gene Chr2:30539773-30619436 (-)
C3H/HeJ ENSMUSG00175039483
 protein coding gene Chr2:30506150-30585820 (-)
C57BL/6NJ ENSMUSG00215046093
 protein coding gene Chr2:30571645-30651301 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023462
 protein coding gene Chr2:29462650-29542004 (-)
CAST/EiJ ENSTCUG00005052134
 protein coding gene Chr2:30252810-30332300 (-)
CBA/J ENSMUSG00210047602
 protein coding gene Chr2:30578663-30658315 (-)
DBA/2J ENSMUSG00185044666
 protein coding gene Chr2:30439878-30519509 (-)
FVB/NJ ENSMUSG00205033146
 protein coding gene Chr2:30286268-30365908 (-)
JF1/MsJ ENSUMUG00000047646
 protein coding gene Chr2:30333321-30413065 (-)
LP/J ENSMUSG00230039034
 protein coding gene Chr2:32358934-32438579 (-)
NOD/ShiLtJ ENSMUSG00190036092
 protein coding gene Chr2:30541219-30620846 (-)
NZO/HlLtJ ENSMUSG00225008942
 protein coding gene Chr2:40112197-40192066 (-)
PWK/PhJ ENSLUMG00010042047
 protein coding gene Chr2:30431993-30511716 (-)
SPRET/EiJ ENSMSPG00010040413
 protein coding gene Chr2:31142643-31218544 (-)
WSB/EiJ ENSIUOG00005039271
 protein coding gene Chr2:30396839-30476362 (-)



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
    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
    111 phenotypes from 8 alleles in 14 genetic backgrounds
    24 phenotypes from multigenic genotypes
    6 images
    100 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
    54
  • GO References
    21
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
membraneless 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
    1244
  • Tissues
    327
  • cDNA Data
    19
  • Literature Summary
    251
  • 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 58
      Genomic 1
      cDNA 21
      Primer pair 12
      Other 24
      Antibodies 16

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1890528
    References
    more
    • Summaries
      All 342
      Developmental Gene Expression 251
      Diseases 4
      Gene Ontology 21
      Phenotypes 100
    • 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:391999 Hermens J, et al., Proteasome inhibition alleviates proteinuria in Lmx1b knock-in mice with dysfunctional LIM domains. Nat Commun. 2026 Sep 11;17(1)
    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
    09/15/2026
    MGI 6.29     		The Jackson Laboratory