Phenotypes Associated with This Genotype

Genotype
MGI:3821613

• Allelic Composition: Baz1b^MommeD10/Baz1b^MommeD10
• Genetic Background: involves: FVB/N

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

mortality/aging

postnatal lethality ( J:142335 )

• most homozygotes die after birth, in the first week of life

• rare survivors at weaning

growth/size/body

malocclusion ( J:142335 )

short nasal bone ( J:142335 )

• shortened 12% relative to controls

• flattened

prominent forehead ( J:142335 )

• widened bulbous forehead

short snout ( J:142335 )

upturned snout ( J:142335 )

• upward curvature of the nasal tip

decreased body size ( J:142335 )

• at weaning

decreased fetal size ( J:142335 )

• noticable in utero at E18.5

craniofacial

small parietal bone ( J:142335 )

• shortened 12% relative to controls

malocclusion ( J:142335 )

mandible hypoplasia ( J:142335 )

• mandibular hypoplasia, particularly posteriorly

short mandible ( J:142335 )

short nasal bone ( J:142335 )

• shortened 12% relative to controls

• flattened

abnormal palatine bone morphology ( J:142335 )

• reduced in width

prominent forehead ( J:142335 )

• widened bulbous forehead

short snout ( J:142335 )

upturned snout ( J:142335 )

• upward curvature of the nasal tip

skeleton

small parietal bone ( J:142335 )

• shortened 12% relative to controls

malocclusion ( J:142335 )

mandible hypoplasia ( J:142335 )

• mandibular hypoplasia, particularly posteriorly

short mandible ( J:142335 )

short nasal bone ( J:142335 )

• shortened 12% relative to controls

• flattened

abnormal palatine bone morphology ( J:142335 )

• reduced in width

respiratory system

short nasal bone ( J:142335 )

• shortened 12% relative to controls

• flattened

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Williams-Beuren syndrome		DOID:1928	OMIM:194050	J:142335