Mouse Genome Informatics
ht
    Gtf2ird1Gt(XE465)Byg/Gtf2ird1+
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Head defects in Gtf2ird1Gt(XE465)Byg/Gtf2ird1+ embryos

craniofacial
• some heterozygous mice displayed craniofacial defects
• the frontonasal suture was lacking the degree of interdigitation observed in the control
• in some heterogygous mice
• in some heterogygous mice
• in some heterogygous mice
• in some heterogygous mice
• in some heterogygous mice
• in some heterogygous mice
• some heterozygous embryos at E11.5 and E12.5 shows bitemporal narrowing of head

nervous system
• in some heterozygous embryos
• in some heterogygous mice

growth/size
• some heterozygous mice are significantly smaller than their wild-type littermates
• hetrozygotes grew significantly slower than control

pigmentation
• white patches of variable size on the belly at low frequency

skeleton
• the frontonasal suture was lacking the degree of interdigitation observed in the control
• in some heterogygous mice
• in some heterogygous mice
• in some heterogygous mice
• in some heterogygous mice
• in some heterogygous mice
• in some heterogygous mice
• in some heterogygous mice

integument
• white patches of variable size on the belly at low frequency

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