About   Help   FAQ
pta Gene Detail
Summary
  • Symbol
    pta
  • Name
    persistent truncus arteriosus
  • Synonyms
    hlb543
  • Feature Type
    heritable phenotypic marker
  • IDs
    MGI:3522243
  • Alliance
    gene page
Location &
Maps
more
  • Sequence Map
    Chr2:119355394-125567658 bp
    From MGI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, Syntenic
  • Mapping Data
    1 experiment
Human Diseases
more
  • Diseases
    3 with pta mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
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
    17 phenotypes from 1 allele in 1 genetic background
    1 phenotype reference
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 this ENU-induced mutation exhibit cardiovascular and craniofacial anomalies, such as persistent truncus arteriosis, atrial septal defect, micrognathia, and flattened snout. Other abnormalities include perinatal lethality, lowered ear position, thymus hypoplasia and short limbs.
References
more
  • Summaries
    All 2
    Diseases 1
    Phenotypes 1
  • Earliest
    J:94456 Yu Q, et al., ENU induced mutations causing congenital cardiovascular anomalies. Development. 2004 Dec;131(24):6211-23
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
12/10/2024
MGI 6.24 		The Jackson Laboratory