Mouse Genome Informatics
ht
    Gtf2iGt(XE029)Byg/Gtf2i+
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• 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 IDRef(s)
Williams-Beuren Syndrome; WBS 194050 J:143508