Phenotypes associated with this allele

• Allele Symbol: Baz1b^tm1Ska
• Allele Name: targeted mutation 1, Shigeaki Kato
• Allele ID: MGI:3850079
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Baz1b^tm1Ska/Baz1b^tm1Ska	involves: C57BL/6 * CBA	MGI:3850084
ht2	Baz1b^tm1Ska/Baz1b^+	involves: C57BL/6 * CBA	MGI:3850085

Genotype
MGI:3850084

hm1

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

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

Smaller body size of Baz1b^tm1Ska/Baz1b^tm1Ska mice

mortality/aging

postnatal lethality, complete penetrance ( J:149990 )

• born with Mendelian frequency but died within a few days

cardiovascular system

aorta coarctation ( J:149990 )

• a narrowed aorta between the left carotid and subclavian arteries is seen at P0

abnormal heart morphology ( J:149990 )

• severe heart defects in all homozygous mutant and ~10% of heterozygous E9.5 embryos and neonates

abnormal myocardium layer morphology ( J:149990 )

• at E9.5, myocardial layers are thicker than in wild-type mice

abnormal myocardial trabeculae morphology ( J:149990 )

• disorganized in neonates

double outlet right ventricle ( J:149990 )

• in 3% of mice

atrial septal defect ( J:149990 )

• in neonates

muscular ventricular septal defect ( J:149990 )

• in neonates

increased heart left ventricle size ( J:149990 )

• in 18% of mice

dilated heart left ventricle ( J:149990 )

• in neonates

increased heart right ventricle size ( J:149990 )

• in 18% of mice

dilated heart right ventricle ( J:149990 )

• in neonates

craniofacial

fourth pharyngeal arch hypoplasia ( J:149990 )

• hypoplastic at E10.5

cellular

cellular phenotype ( J:149990 )

N • proliferation of mouse embryonic fibroblasts is normal

abnormal double-strand DNA break repair ( J:149990 )

• mouse embryonic fibroblasts exhibit impaired recovery from DNA double-strand breaks compared with wild-type cells

growth/size/body

decreased birth body size ( J:149990 )

• reduced body size at birth

homeostasis/metabolism

abnormal double-strand DNA break repair ( J:149990 )

• mouse embryonic fibroblasts exhibit impaired recovery from DNA double-strand breaks compared with wild-type cells

embryo

fourth pharyngeal arch hypoplasia ( J:149990 )

• hypoplastic at E10.5

muscle

abnormal myocardium layer morphology ( J:149990 )

• at E9.5, myocardial layers are thicker than in wild-type mice

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

Genotype
MGI:3850085

ht2

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

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