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Phenotypes Associated with This Genotype
Genotype
MGI:3850084
Allelic
Composition
Baz1btm1Ska/Baz1btm1Ska
Genetic
Background
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Baz1btm1Ska mutation (0 available); any Baz1b mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• born with Mendelian frequency but died within a few days (J:149990)
• born with Mendelian frequency but died within a few days (J:149990)

cardiovascular system
• a narrowed aorta between the left carotid and subclavian arteries is seen at P0 (J:149990)
• a narrowed aorta between the left carotid and subclavian arteries is seen at P0 (J:149990)
• severe heart defects in all homozygous mutant and ~10% of heterozygous E9.5 embryos and neonates (J:149990)
• severe heart defects in all homozygous mutant and ~10% of heterozygous E9.5 embryos and neonates (J:149990)
• in 3% of mice (J:149990)
• in 3% of mice (J:149990)
• in neonates (J:149990)
• in neonates (J:149990)
• at E9.5, myocardial layers are thicker than in wild-type mice (J:149990)
• at E9.5, myocardial layers are thicker than in wild-type mice (J:149990)
• disorganized in neonates (J:149990)
• disorganized in neonates (J:149990)
• in neonates (J:149990)
• in neonates (J:149990)
• in 18% of mice (J:149990)
• in 18% of mice (J:149990)
• in neonates (J:149990)
• in neonates (J:149990)
• in 18% of mice (J:149990)
• in 18% of mice (J:149990)
• in neonates (J:149990)
• in neonates (J:149990)

craniofacial
• hypoplastic at E10.5 (J:149990)
• hypoplastic at E10.5 (J:149990)

cellular
N
• proliferation of mouse embryonic fibroblasts is normal (J:149990)
• proliferation of mouse embryonic fibroblasts is normal (J:149990)
• mouse embryonic fibroblasts exhibit impaired recovery from DNA double-strand breaks compared with wild-type cells (J:149990)
• mouse embryonic fibroblasts exhibit impaired recovery from DNA double-strand breaks compared with wild-type cells (J:149990)

growth/size/body
• reduced body size at birth (J:149990)
• reduced body size at birth (J:149990)

homeostasis/metabolism
• mouse embryonic fibroblasts exhibit impaired recovery from DNA double-strand breaks compared with wild-type cells (J:149990)
• mouse embryonic fibroblasts exhibit impaired recovery from DNA double-strand breaks compared with wild-type cells (J:149990)

embryogenesis
• hypoplastic at E10.5 (J:149990)
• hypoplastic at E10.5 (J:149990)

muscle
• disorganized in neonates (J:149990)
• disorganized in neonates (J:149990)

Mouse Models of Human Disease
OMIM ID Ref(s)
Williams-Beuren Syndrome; WBS 194050 J:149990


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory