Mouse Genome Informatics
hm
    Baz1btm1Ska/Baz1btm1Ska
involves: C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 (J:149990)
• 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

embryogenesis

muscle
• disorganized in neonates

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