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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 (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• born with Mendelian frequency but died within a few days

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

craniofacial

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

growth/size/body
• reduced body size at birth

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

embryo

muscle
• disorganized in neonates

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
05/24/2016
MGI 6.04
The Jackson Laboratory