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Phenotypes Associated with This Genotype
Genotype
MGI:3821613
Allelic
Composition
Baz1bMommeD10/Baz1bMommeD10
Genetic
Background
involves: FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Baz1bMommeD10 mutation (0 available); any Baz1b mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most homozygotes die after birth, in the first week of life
• rare survivors at weaning

growth/size/body
• upward curvature of the nasal tip
• widened bulbous forehead
• at weaning
• noticable in utero at E18.5

craniofacial
• shortened 12% relative to controls
• mandibular hypoplasia, particularly posteriorly
• mandibular hypoplasia
• shortened 12% relative to controls
• flattened
• upward curvature of the nasal tip
• widened bulbous forehead

skeleton
• shortened 12% relative to controls
• mandibular hypoplasia, particularly posteriorly
• mandibular hypoplasia
• shortened 12% relative to controls
• flattened

Mouse Models of Human Disease
OMIM ID Ref(s)
Williams-Beuren Syndrome; WBS 194050 J:142335


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory