Phenotypes Associated with This Genotype

Genotype
MGI:2654555

• Allelic Composition: Dvl2^tm1Awb/Dvl2^tm1Awb
• Genetic Background: either: 129S6/SvEvTac-Dvl2^tm1Awb or (involves: 129S6/SvEvTac * NIH Swiss)

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:79834 )

• incomplete penetrance; more than 50% die after E18.5

cardiovascular system

persistent truncus arteriosus ( J:79834 )

• exhibited by several embryos

double outlet right ventricle ( J:79834 )

• most common defect observed by mice with cardiovascular abnormalities

• frequently observed in conjuction with ventricular septal defects

transposition of great arteries ( J:79834 )

• observed in a single embryo

ventricular septal defect ( J:79834 )

• frequently observed in conjuction with double outlet right ventricle

embryo

open neural tube ( J:79834 )

• exhibited at E9.5 by 2-3% of mutant mice

abnormal somite development ( J:79834 )

• mild abnormalities in somite segmentation

homeostasis/metabolism

cyanosis ( J:79834 )

• surviving mice were predominantly female

limbs/digits/tail

kinked tail ( J:79834 )

• exhibited by 25% of surviving mice

vestigial tail ( J:79834 )

• exhibited by some surviving mice

skeleton

abnormal xiphoid process morphology ( J:79834 )

• observed in one neonate

• affecting the sixth sternebra

abnormal rib morphology ( J:79834 )

• 90% displayed minor abnormalities

• normal rib number

rib bifurcation ( J:79834 )

rib fusion ( J:79834 )

scoliosis ( J:79834 )

• exhibited by surviving mutant mice

abnormal vertebrae morphology ( J:79834 )

• 90% displayed minor abnormalities

• defects localized dorsally in vertebral ribs and vertebral bodies

abnormal thoracic vertebrae morphology ( J:79834 )

• disorganized thoracic vertebrae

nervous system

open neural tube ( J:79834 )

• exhibited at E9.5 by 2-3% of mutant mice

exencephaly ( J:79834 )

• exhibited at E9.5 by 2-3% of mutant mice

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:100861 )

N • normal stereocilia orientation at E18.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dextro-looped transposition of the great arteries		DOID:0060770	OMIM:608808	J:96661