All Phenotypes Baz1b<MommeD10> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Baz1b^MommeD10/Baz1b^MommeD10	involves: FVB/N	MGI:3821613
ht2	Baz1b^MommeD10/Baz1b⁺	involves: FVB/N	MGI:3821614

♀	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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Baz1b^MommeD10 mutation (1 available); any Baz1b mutation (79 available)

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

reproductive system

decreased litter size ( J:142335 )

craniofacial

small parietal bone ( J:142335 )

• shortened 12% relative to controls

short nasal bone ( J:142335 )

• shortened 12% relative to controls

• flattened

abnormal palatine bone morphology ( J:142335 )

• reduced in width

skeleton

small parietal bone ( J:142335 )

• shortened 12% relative to controls

short nasal bone ( J:142335 )

• shortened 12% relative to controls

• flattened

abnormal palatine bone morphology ( J:142335 )

• reduced in width

growth/size/body

short nasal bone ( J:142335 )

• shortened 12% relative to controls

• flattened

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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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