Mouse Genome Informatics
hm1
    Gtf2iGt(XE029)Byg/Gtf2iGt(XE029)Byg
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Craniofacial, vascular, allantois and other defects in Gtf2iGt(XE029)Byg/Gtf2iGt(XE029)Byg and Gtf2ird1Gt(XE465)Byg/Gtf2ird1Gt(XE465)Byg embryos at E9.5 - E12.5

mortality/aging
• die between E8.5 and E12.5

embryogenesis
• among surviving homozygous embryos at E9.5 and E10.5
• swollen allantois
• allantois failed to fuse to the chorion
• embryos appeared to be delayed in development by 12 to 24 hours based on their body size

growth/size
• in some surviving homozygous embryos at E9.5 and E10.5
• embryos appeared to be delayed in development by 12 to 24 hours based on their body size

cardiovascular system
• arrested heart looping among surviving homozygous embryos at E9.5 and E10.5
• among surviving homozygous embryos at E9.5 and E10.5
• varying degree of intraembryonic bleeding in the head, neck, heart, and back area
• the incidence and severity of the hemorrhage increased during development
• at E12.5 over 60% of embryos suffered serious bleeding

craniofacial
• among surviving homozygous embryos at E9.5 and E10.5
• in some surviving homozygous embryos at E9.5 and E10.5

nervous system
• small frontonasal primodia among surviving homozygous embryos at E9.5 and E10.5
• absent mesencephalic and telencephalic vesicles in some surviving homozygous embryos at E9.5 and E10.5
• in some surviving homozygous embryos at E9.5 and E10.5


Mouse Genome Informatics
ht2
    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