Phenotypes associated with this allele

• Allele Symbol: Gtf2i^Gt(XE029)Byg
• Allele Name: gene trap XE029, BayGenomics
• Allele ID: MGI:3831527
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gtf2i^Gt(XE029)Byg/Gtf2i^Gt(XE029)Byg	involves: 129P2/OlaHsd * C57BL/6	MGI:3831542
ht2	Gtf2i^Gt(XE029)Byg/Gtf2i^+	involves: 129P2/OlaHsd * C57BL/6	MGI:3831546

Genotype
MGI:3831542

hm1

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

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

Craniofacial, vascular, allantois and other defects in Gtf2i^Gt(XE029)Byg/Gtf2i^Gt(XE029)Byg and Gtf2ird1^Gt(XE465)Byg/Gtf2ird1^Gt(XE465)Byg embryos at E9.5 - E12.5

mortality/aging

embryonic lethality, complete penetrance ( J:143508 )

• die between E8.5 and E12.5

embryo

pharyngeal arch hypoplasia ( J:143508 )

• among surviving homozygous embryos at E9.5 and E10.5

embryonic growth retardation ( J:143508 )

• embryos appeared to be delayed in development by 12 to 24 hours based on their body size

decreased embryo size ( J:143508 )

dilated allantois ( J:143508 )

• swollen allantois

failure of chorioallantoic fusion ( J:143508 )

• allantois failed to fuse to the chorion

growth/size/body

midline facial cleft ( J:143508 )

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

embryonic growth retardation ( J:143508 )

• embryos appeared to be delayed in development by 12 to 24 hours based on their body size

decreased embryo size ( J:143508 )

cardiovascular system

failure of heart looping ( J:143508 )

• arrested heart looping among surviving homozygous embryos at E9.5 and E10.5

distended pericardium ( J:143508 )

• among surviving homozygous embryos at E9.5 and E10.5

internal hemorrhage ( J:143508 )

• 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

pharyngeal arch hypoplasia ( J:143508 )

• among surviving homozygous embryos at E9.5 and E10.5

midline facial cleft ( J:143508 )

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

nervous system

abnormal brain development ( J:143508 )

• 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

exencephaly ( J:143508 )

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

Genotype
MGI:3831546

ht2

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

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