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Phenotypes Associated with This Genotype
Genotype
MGI:3831546
Allelic
Composition
Gtf2iGt(XE029)Byg/Gtf2i+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gtf2iGt(XE029)Byg mutation (1 available); any Gtf2i mutation (97 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Reduced growth, exencephaly and craniofacial and pigmentation defects in Gtf2iGt(XE029)Byg/Gtf2i+ and Gtf2ird1Gt(XE465)Byg/Gtf2ird1+ mice

craniofacial
• Although most heterozygote are normal and fertile, at low frequency, growth retardation and small head are also reported
• some heterozygous embryos at E11.5 and E12.5 shows bitemporal narrowing of head

nervous system
• in some heterozygous embryos

growth/size/body
• some heterozygous embryos at E11.5 and E12.5 shows bitemporal narrowing of head
• some heterozygous mice are significantly smaller than their wild-type littermates

Mouse Models of Human Disease
OMIM ID Ref(s)
Williams-Beuren Syndrome; WBS 194050 J:143508


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory