Phenotypes Associated with This Genotype

Genotype
MGI:3831546

• Allelic Composition: Gtf2i^Gt(XE029)Byg/Gtf2i⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

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

craniofacial

abnormal craniofacial morphology ( J:143508 )

• Although most heterozygote are normal and fertile, at low frequency, growth retardation and small head are also reported

narrow head ( J:143508 )

• some heterozygous embryos at E11.5 and E12.5 shows bitemporal narrowing of head

nervous system

exencephaly ( J:143508 )

• in some heterozygous embryos

growth/size/body

narrow head ( J:143508 )

• some heterozygous embryos at E11.5 and E12.5 shows bitemporal narrowing of head

decreased body size ( J:143508 )

• some heterozygous mice are significantly smaller than their wild-type littermates

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Williams-Beuren syndrome		DOID:1928	OMIM:194050	J:143508