Phenotypes associated with this allele

• Allele Symbol: Gtf2ird1^Gt(XE465)Byg
• Allele Name: gene trap XE465, BayGenomics
• Allele ID: MGI:3831526
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gtf2ird1^Gt(XE465)Byg/Gtf2ird1^Gt(XE465)Byg	involves: 129P2/OlaHsd * C57BL/6	MGI:3831536
ht2	Gtf2ird1^Gt(XE465)Byg/Gtf2ird1^+	involves: 129P2/OlaHsd * C57BL/6	MGI:3831537

Genotype
MGI:3831536

hm1

• Allelic Composition: Gtf2ird1^Gt(XE465)Byg/Gtf2ird1^Gt(XE465)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 during organogenesis, complete penetrance ( J:143508 )

• die between E8.5 and E12.5

embryo

abnormal vitelline vasculature morphology ( J:143508 )

• disorganized yolk sac vasculature

• blood island are readily detectable

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

pale yolk sac ( J:143508 )

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

abnormal vitelline vasculature morphology ( J:143508 )

• disorganized yolk sac vasculature

• blood island are readily detectable

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

integument

pallor ( J:143508 )

• pale embryos

Genotype
MGI:3831537

ht2

• Allelic Composition: Gtf2ird1^Gt(XE465)Byg/Gtf2ird1⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Head defects in Gtf2ird1^Gt(XE465)Byg/Gtf2ird1⁺ embryos

craniofacial

abnormal craniofacial morphology ( J:143508 )

• some heterozygous mice displayed craniofacial defects

abnormal frontonasal suture morphology ( J:143508 )

• the frontonasal suture was lacking the degree of interdigitation observed in the control

small cranium ( J:143508 )

• in some heterogygous mice

absent frontal bone ( J:143508 )

• in some heterogygous mice

absent interparietal bone ( J:143508 )

• in some heterogygous mice

absent supraoccipital bone ( J:143508 )

• in some heterogygous mice

absent parietal bone ( J:143508 )

• in some heterogygous mice

domed cranium ( J:143508 )

• in some heterogygous mice

narrow head ( J:143508 )

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

nervous system

hydrocephaly ( J:143508 )

• in some heterogygous mice

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

postnatal growth retardation ( J:143508 )

• hetrozygotes grew significantly slower than control

pigmentation

belly spot ( J:143508 )

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

skeleton

abnormal frontonasal suture morphology ( J:143508 )

• the frontonasal suture was lacking the degree of interdigitation observed in the control

small cranium ( J:143508 )

• in some heterogygous mice

absent frontal bone ( J:143508 )

• in some heterogygous mice

absent interparietal bone ( J:143508 )

• in some heterogygous mice

absent supraoccipital bone ( J:143508 )

• in some heterogygous mice

absent parietal bone ( J:143508 )

• in some heterogygous mice

domed cranium ( J:143508 )

• in some heterogygous mice

kyphosis ( J:143508 )

• in some heterogygous mice

integument

belly spot ( J:143508 )

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

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