Phenotypes Associated with This Genotype

Genotype
MGI:3850085

• Allelic Composition: Baz1b^tm1Ska/Baz1b⁺
• Genetic Background: involves: C57BL/6 * CBA

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

Cardiac defects and aortic arch disorganization in Baz1b^tm1Ska/Baz1b⁺ and Baz1b^tm1Ska/Baz1b^tm1Ska embryos

cardiovascular system

abnormal heart morphology ( J:149990 )

• in 10% of mice at E9.5 and P0

abnormal myocardial trabeculae morphology ( J:149990 )

• disorganized in neonates

atrial septal defect ( J:149990 )

• in neonates

muscular ventricular septal defect ( J:149990 )

• in neonates

dilated heart left ventricle ( J:149990 )

• in neonates

dilated heart right ventricle ( J:149990 )

• in neonates

homeostasis/metabolism

increased circulating calcium level ( J:149990 )

muscle

abnormal myocardial trabeculae morphology ( J:149990 )

• disorganized in neonates

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Williams-Beuren syndrome		DOID:1928	OMIM:194050	J:149990