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Phenotypes Associated with This Genotype
Genotype
MGI:7314941
Allelic
Composition
Gata3tm1Gsv/Gata3tm1Gsv
Genetic
Background
involves: 129 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata3tm1Gsv mutation (0 available); any Gata3 mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• survival is extended past E13.5 to E18.5 by treatment of pregnant dams with isoproterenol and phenylephrine

craniofacial
• dysmorphic at E16.5
• at E13.5 there is a gap in the left Meckel's cartilage of varying length with the symphysis curved downward
• at E13.5 there is also a smaller gap in the right Meckel's cartilage
• narrow jaw region at E18.5
• amount of proximal craniofacial bone present is asymmetric
• at E16.5 mandible and maxilla skew to the left side
• upper and lower molar development appears to arrest at the early bud stage
• mandibular condyles are absent
• at E18.5 most of the proximal mandible is missing
• evident at E16.5
• at E18.5 most of the proximal maxilla is missing
• at E16.5 the maxilla is present but hypoplastic
• at E18.5
• the distal mandible is fused to the maxilla
• the jugal bone fails to extend posteriorly at E16.5, instead extending caudally and fusing with the mandible
• at E13.5 palatal shelves are not apparent suggesting a delay in development
• decrease in the number of mesenchymal cells at E9.5
• asymmetric reduction in proximal craniofacial bone resembles microsomia
• at E18.5
• distal microstomia is seen as early as E13.5
• the distal oral cavity is almost completely closed with oral ectoderm at E16.5
• the right palatal shelf is not elevated and the left shelf is absent
• hypoplastic with disorganized connective tissue and muscle fibers

cellular
• expression analysis indicates that a subset of neural crest cells either fail to reach the arches or have disrupted expression patterns

nervous system
• most of the maxillary branch is absent
• abnormal branching

embryo
• expression analysis indicates that a subset of neural crest cells either fail to reach the arches or have disrupted expression patterns
• decrease in the number of mesenchymal cells at E9.5

hearing/vestibular/ear

digestive/alimentary system
• at E13.5 palatal shelves are not apparent suggesting a delay in development
• the right palatal shelf is not elevated and the left shelf is absent
• hypoplastic with disorganized connective tissue and muscle fibers

growth/size/body
• upper and lower molar development appears to arrest at the early bud stage
• at E13.5 palatal shelves are not apparent suggesting a delay in development
• asymmetric reduction in proximal craniofacial bone resembles microsomia
• at E18.5
• distal microstomia is seen as early as E13.5
• the distal oral cavity is almost completely closed with oral ectoderm at E16.5
• the right palatal shelf is not elevated and the left shelf is absent
• hypoplastic with disorganized connective tissue and muscle fibers

skeleton
• dysmorphic at E16.5
• at E13.5 there is a gap in the left Meckel's cartilage of varying length with the symphysis curved downward
• at E13.5 there is also a smaller gap in the right Meckel's cartilage
• narrow jaw region at E18.5
• amount of proximal craniofacial bone present is asymmetric
• at E16.5 mandible and maxilla skew to the left side
• upper and lower molar development appears to arrest at the early bud stage
• mandibular condyles are absent
• at E18.5 most of the proximal mandible is missing
• evident at E16.5
• at E18.5 most of the proximal maxilla is missing
• at E16.5 the maxilla is present but hypoplastic
• at E18.5
• the distal mandible is fused to the maxilla
• the jugal bone fails to extend posteriorly at E16.5, instead extending caudally and fusing with the mandible


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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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory