All Phenotypes Gtf2i<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Gtf2i⁺
wild type
MGI:2435089

Summary

2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Gtf2i^Gt(XE029)Byg/Gtf2i⁺	involves: 129P2/OlaHsd * C57BL/6	MGI:3831546
ht2	Gtf2i^tm1Vcam/Gtf2i⁺	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:5532294

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gtf2i^Gt(XE029)Byg mutation (1 available); any Gtf2i mutation (137 available)

♀	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

Allelic Composition	Gtf2i^tm1Vcam/Gtf2i⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gtf2i^tm1Vcam mutation (1 available); any Gtf2i mutation (137 available)

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

behavior/neurological

behavior/neurological phenotype ( J:204278 )

abnormal behavior ( J:204278 )

decreased exploration in new environment ( J:204278 )

increased anxiety-related response ( J:204278 )

• in an elevated plus maze, mice exhibit decreased percentage of entries and time in the open arms compared with wild-type mice

• in an open field, mice exhibit increased freezing in the central zone initially with fewer entries into the central zone later compared with wild-type mice

• in a light/dark box, mice exhibit increased latency to first entry and decreased numbers of entries compared with wild-type mice

decreased vertical activity ( J:204278 )

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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