Phenotypes Associated with This Genotype

Genotype
MGI:5313541

• Allelic Composition: b2b370Clo/b2b370Clo
• Genetic Background: C57BL/6J-b2b370Clo

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

Craniofacial abnormalities including proboscis, lack of mouth and lower jaw.

cardiovascular system

abnormal blood vessel morphology ( J:175213 )

• thickened great artery walls

pulmonary artery stenosis ( J:175213 )

• stenosis of bilateral branch

abnormal aortic arch morphology ( J:175213 )

abnormal aortic arch and aortic arch branch attachment ( J:175213 )

right aortic arch ( J:175213 )

supravalvar aortic stenosis ( J:175213 )

• narrowed ascending aorta

ascending aorta hypoplasia ( J:175213 )

abnormal brachiocephalic trunk morphology ( J:175213 )

• hypoplasia of brachiocephalic arteries

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

muscle

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

diaphragmatic hernia ( J:175213 )

craniofacial

micrognathia ( J:175213 )

abnormal mouth morphology ( J:175213 )

absent mouth ( J:175213 )

• no oral cavity opening

proboscis ( J:175213 )

nervous system

holoprosencephaly ( J:175213 )

skeleton

micrognathia ( J:175213 )

growth/size/body

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

abnormal mouth morphology ( J:175213 )

absent mouth ( J:175213 )

• no oral cavity opening

proboscis ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Williams-Beuren syndrome		DOID:1928	OMIM:194050	J:175213