Phenotypes Associated with This Genotype

Genotype
MGI:3522704

• Allelic Composition: pta/pta
• Genetic Background: C57BL/6J-pta

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

perinatal lethality ( J:94456 )

cardiovascular system

persistent truncus arteriosus ( J:94456 )

• a single great artery gives rise to the coronary arteries, aorta and pulmonary arteries, with a short main pulmonary artery segment

abnormal atrioventricular valve morphology ( J:94456 )

ostium primum atrial septal defect ( J:94456 )

• primum atrial septal defect

complete atrioventricular septal defect ( J:94456 )

• a common atrioventricular canal is present

semilunar valve regurgitation ( J:94456 )

• outflow tract regurgitation is seen

craniofacial

enlarged frontal bone ( J:94456 )

• enlarged frontal bone resulting in a dome-shaped head

short mandible ( J:94456 )

short premaxilla ( J:94456 )

short maxilla ( J:94456 )

micrognathia ( J:94456 )

short nasal bone ( J:94456 )

• short nasal bones

domed cranium ( J:94456 )

flattened snout ( J:94456 )

lowered ear position ( J:94456 )

hearing/vestibular/ear

lowered ear position ( J:94456 )

immune system

thymus hypoplasia ( J:94456 )

limbs/digits/tail

short limbs ( J:94456 )

skeleton

enlarged frontal bone ( J:94456 )

• enlarged frontal bone resulting in a dome-shaped head

short mandible ( J:94456 )

short premaxilla ( J:94456 )

short maxilla ( J:94456 )

micrognathia ( J:94456 )

short nasal bone ( J:94456 )

• short nasal bones

domed cranium ( J:94456 )

hematopoietic system

thymus hypoplasia ( J:94456 )

endocrine/exocrine glands

thymus hypoplasia ( J:94456 )

growth/size/body

short nasal bone ( J:94456 )

• short nasal bones

flattened snout ( J:94456 )

lowered ear position ( J:94456 )

respiratory system

short nasal bone ( J:94456 )

• short nasal bones

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atrial heart septal defect 1		DOID:0110106	OMIM:108800	J:94456
atrioventricular septal defect		DOID:0050651	OMIM:606215 OMIM:614430 OMIM:614474	J:94456
DiGeorge syndrome		DOID:11198	OMIM:188400	J:94456