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Phenotypes Associated with This Genotype
Genotype
MGI:3831537
Allelic
Composition
Gtf2ird1Gt(XE465)Byg/Gtf2ird1+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gtf2ird1Gt(XE465)Byg mutation (1 available); any Gtf2ird1 mutation (321 available)
phenotype observed in females
phenotype observed in males
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/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
• 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 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
05/17/2016
MGI 6.03
The Jackson Laboratory