Lmx1b MGI Mouse Gene Detail - MGI:1100513 - LIM homeobox transcription factor 1 beta

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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
  • Transcription Start Sites
    3 TSS
  • Regulated by
    Rr263, Rr264, Rr265 (3 regulatory regions)
Location &
Maps
more
  • Sequence Map
    Chr2:33450977-33530620 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • 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
    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
nail-patella syndrome

DOID:9467
ICD10CM:Q87.2
MESH:D009261
NCI:C75120
OMIM:161200
ORDO:2614
UMLS_CUI:C0027341

 View 4 models
Mouse Models

Human Disease Modeled: nail-patella syndrome

Allelic Composition Genetic Background Reference Phenotypes
Lmx1btm1Rjo/Lmx1btm1Rjo
involves: 129 * C57BL/6 J:47316 View
Lmx1btm1Rjo/Lmx1btm1Rjo
involves: 129S7/SvEvBrd J:95961 View
Lmx1btm1Rjo/Lmx1btm1Rjo
involves: 129S7/SvEvBrd * C57BL/6 J:95961 View
Lmx1btm4.1Rjo/Lmx1btm4.1Rjo
Tg(NPHS2-cre)295Lbh/0
 involves: 129S7/SvEvBrd * C57BL/6 * SJL J:122505 View
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
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  • Phenotype Summary
    115 phenotypes from 8 alleles in 15 genetic backgrounds
    20 phenotypes from multigenic genotypes
    6 images
    96 phenotype references
Phenotype Overview

Phenotype Overview
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.
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
  • GO References
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

Expression Overview
GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.
  • Blue cells = expressed in wild-type.
    Gray triangles = other expression annotations only
    (e.g. absence of expression or data from mutants).
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
  • Comparison Matrix
    • 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 57
      Genomic 1
      cDNA 21
      Primer pair 12
      Other 23

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1890528
    References
    more
    • Summaries
      All 330
      Developmental Gene Expression 243
      Diseases 4
      Gene Ontology 22
      Phenotypes 96
    • 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:373938 Li K, et al., Pyruvate and related energetic metabolites modulate resilience against high genetic risk for glaucoma. Elife. 2025 Apr 24;14
    Lmx1b expression regulated by:
    Feature Feature Type Location Reference
    Rr263, regulatory region 263 enhancer Chr2:33590835-33590949 J:312494
    Rr264, regulatory region 264 silencer Chr2:33591659-33591674 J:312494
    Rr265, regulatory region 265 enhancer Chr2:33596150-33596239 J:312494
    TSS for Lmx1b:
    (View these features in JBrowse)
    Transcription Start Site Location Distance from Gene 5'-end
    Tssr23605 Chr2:33531104-33531124 (-) -494 bp
    Tssr23604 Chr2:33531076-33531093 (-) -465 bp
    Tssr23603 Chr2:33530878-33530902 (-) -270 bp
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support. last database update
    10/07/2025
    MGI 6.24 The Jackson Laboratory
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