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pta Gene Detail
Summary
  • Symbol
    pta
  • Name
    persistent truncus arteriosus
  • Synonyms
    hlb543
  • Feature Type
    heritable phenotypic marker
  • IDs
    MGI:3522243
Location & Maps
more
  • Genetic Map
    Chromosome 2, Syntenic
  • Mapping Data
    1 experiment
Human Diseases
more
  • Diseases
    3 with pta mouse models

Human Disease Mouse Models
       Atrial Septal Defect 1; ASD1   OMIM: 108800 View 1 model
Atrioventricular Septal Defect; AVSD   OMIM: 606215 View 1 model
DiGeorge Syndrome; DGS   OMIM: 188400 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
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  • 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.
  • All Mutations and Alleles
    1
  • Chemically induced (ENU)
    1
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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory