Mouse Genome Informatics
hm
    pta/pta
C57BL/6J-pta
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging

cardiovascular system
• a single great artery gives rise to the coronary arteries, aorta and pulmonary arteries, with a short main pulmonary artery segment
• primum atrial septal defect
• a common atrioventricular canal is present
• outflow tract regurgitation is seen

craniofacial
• enlarged frontal bone resulting in a dome-shaped head
• short nasal bones

hearing/vestibular/ear

immune system

limbs/digits/tail

skeleton
• enlarged frontal bone resulting in a dome-shaped head
• short nasal bones

hematopoietic system

endocrine/exocrine glands

growth/size

Mouse Models of Human Disease
OMIM IDRef(s)
Atrial Septal Defect 1; ASD1 108800 J:94456
Atrioventricular Septal Defect; AVSD 606215 J:94456
DiGeorge Syndrome; DGS 188400 J:94456