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Asl Gene Detail
Summary
  • Symbol
    Asl
  • Name
    argininosuccinate lyase
  • Synonyms
    2510006M18Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:88084
    NCBI Gene: 109900
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:130040099-130053222 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 68.37 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    428 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_88084
 protein coding gene Chr5:130040099-130058088 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030138
 protein coding gene Chr5:134119483-134138772 (-)
A/J MGP_AJ_G0030106
 protein coding gene Chr5:128464148-128482108 (-)
AKR/J MGP_AKRJ_G0030039
 protein coding gene Chr5:132635099-132653013 (-)
BALB/cJ MGP_BALBcJ_G0030116
 protein coding gene Chr5:129813851-129831831 (-)
C3H/HeJ MGP_C3HHeJ_G0029832
 protein coding gene Chr5:133202602-133221579 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030569
 protein coding gene Chr5:139249936-139270042 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027794
 protein coding gene Chr5:122846199-122864130 (-)
CAST/EiJ MGP_CASTEiJ_G0029242
 protein coding gene Chr5:132506953-132528627 (-)
CBA/J MGP_CBAJ_G0029802
 protein coding gene Chr5:144691590-144714410 (-)
DBA/2J MGP_DBA2J_G0029953
 protein coding gene Chr5:128428452-128449216 (-)
FVB/NJ MGP_FVBNJ_G0029908
 protein coding gene Chr5:127521125-127540275 (-)
LP/J MGP_LPJ_G0030041
 protein coding gene Chr5:134630111-134650974 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029940
 protein coding gene Chr5:148031037-148050025 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030609
 protein coding gene Chr5:132338960-132357055 (-)
PWK/PhJ MGP_PWKPhJ_G0028956
 protein coding gene Chr5:127361234-127379690 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028792
 protein coding gene Chr5:129898833-129920112 (-)
WSB/EiJ MGP_WSBEiJ_G0029315
 protein coding gene Chr5:133038975-133059328 (-)



Homology
more
  • Human Ortholog
    ASL, argininosuccinate lyase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ASL, argininosuccinate lyase
  • Synonyms
    ASAL
  • Links
    NCBI Gene ID: 435
    neXtProt AC: NX_P04424
    UniProt: P04424

  • Chr Location
    7q11.21; chr7:66075800-66094697 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Asl mouse models; 2 with human ASL associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    35 phenotypes from 3 alleles in 1 genetic background
    2 phenotypes from multigenic genotypes
    23 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.
Mice homozygous for disruptions in this gene fed well initially but then stopped feeding and became inactive before dying within 48 hours of birth. Arginine metabolism is disrupted leading to abnormal circulating amino acid levels.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    30
  • 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
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
    813
  • Tissues
    99
  • cDNA Data
    110
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 109900 NCBI Gene Model | MGI Sequence Detail 13124 C57BL/6J ±  kb
    transcript NM_133768 RefSeq | MGI Sequence Detail 1824 ZRU/MplStud  
    polypeptide Q91YI0 UniProt | EBI | MGI Sequence Detail 464 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 114
      cDNA 112
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-1420, MGI:1924052
    References
    more
    • Summaries
      All 64
      Developmental Gene Expression 4
      Diseases 2
      Gene Ontology 9
      Phenotypes 23
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:342502 Kho J, et al., Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression. JCI Insight. 2023 Sep 8;8(17)
    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
    12/17/2024
    MGI 6.24     		The Jackson Laboratory