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Alx1 Gene Detail
Summary
  • Symbol
    Alx1
  • Name
    ALX homeobox 1
  • Synonyms
    Cart1
  • Feature Type
    protein coding gene
  • IDs
    MGI:104621
    NCBI Gene: 216285
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:102843708-102865501 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 53.56 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    123 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_104621
 protein coding gene Chr10:102834568-102866076 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017697
 protein coding gene Chr10:105037023-105063261 (-)
A/J MGP_AJ_G0017676
 protein coding gene Chr10:101185573-101206955 (-)
AKR/J MGP_AKRJ_G0017638
 protein coding gene Chr10:104151588-104172784 (-)
BALB/cJ MGP_BALBcJ_G0017640
 protein coding gene Chr10:101541340-101562914 (-)
C3H/HeJ MGP_C3HHeJ_G0017465
 protein coding gene Chr10:104159064-104183539 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018097
 protein coding gene Chr10:108716415-108737648 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015776
 protein coding gene Chr10:96431352-96452630 (-)
CAST/EiJ MGP_CASTEiJ_G0017026
 protein coding gene Chr10:104240833-104265644 (-)
CBA/J MGP_CBAJ_G0017434
 protein coding gene Chr10:112850764-112878086 (-)
DBA/2J MGP_DBA2J_G0017539
 protein coding gene Chr10:100282522-100303990 (-)
FVB/NJ MGP_FVBNJ_G0017533
 protein coding gene Chr10:99359258-99380912 (-)
LP/J MGP_LPJ_G0017613
 protein coding gene Chr10:105645107-105667081 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017563
 protein coding gene Chr10:114698638-114723095 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018135
 protein coding gene Chr10:104072642-104096944 (-)
PWK/PhJ MGP_PWKPhJ_G0016808
 protein coding gene Chr10:100395565-100417138 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016598
 protein coding gene Chr10:102898824-102922864 (-)
WSB/EiJ MGP_WSBEiJ_G0017086
 protein coding gene Chr10:104135879-104157368 (-)



Homology
more
  • Human Ortholog
    ALX1, ALX homeobox 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ALX1, ALX homeobox 1
  • Synonyms
    CART1, FND3, HEL23
  • Links
    NCBI Gene ID: 8092
    neXtProt AC: NX_Q15699
    UniProt: Q15699

  • Chr Location
    12q21.31; chr12:85280220-85301784 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Alx1 mouse models; 1 with human ALX1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    52 phenotypes from 2 alleles in 5 genetic backgrounds
    37 phenotypes from multigenic genotypes
    13 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 null allele show cranial neural tube and forebrain mesenchyme defects leading to acrania, meroanencephaly, and neonatal lethality. Homozygotes for another null allele die neonatally and display eye morphogenesis defects and craniofacial abnormalities, including frontonasal malformations, notching of the upper lip and cleft palate.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    38
  • GO References
    9
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
    932
  • Tissues
    128
  • cDNA Data
    25
  • Literature Summary
    48
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 216285 NCBI Gene Model | MGI Sequence Detail 21794 C57BL/6J ±  kb
    transcript NM_001421476 RefSeq | MGI Sequence Detail 2702 ZRU/MplStud  
    polypeptide Q8C8B0 UniProt | EBI | MGI Sequence Detail 326 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 39
      Genomic 1
      cDNA 27
      Primer pair 7
      Other 4

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-26058, MGI:2143564
    References
    more
    • Summaries
      All 90
      Developmental Gene Expression 48
      Diseases 1
      Gene Ontology 9
      Phenotypes 13
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:345597 Quilez S, et al., Loss of Neogenin alters branchial arch development and leads to craniofacial skeletal defects. Front Cell Dev Biol. 2024;12:1256465
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory