Phenotypes associated with this allele

• Allele Symbol: Gtf2i^tm1Vcam
• Allele Name: targeted mutation 1, Victoria Campuzano
• Allele ID: MGI:5532204
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gtf2i^tm1Vcam/Gtf2i^tm1Vcam	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:5532293
ht2	Gtf2i^tm1Vcam/Gtf2i^+	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:5532294

Genotype
MGI:5532293

hm1

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

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

Embryonic abnormalities and craniofacial dysmorphology in Gtf2i^tm1Vcam/Gtf2i^tm1Vcam mutant mice

mortality/aging

prenatal lethality, incomplete penetrance ( J:204278 )

• fewer than expected mice are present at birth

embryonic lethality, incomplete penetrance ( J:204278 )

• some mice die before E7.5

• fewer than expected mice are present between E8.5 and E12.5

reproductive system

small testis ( J:204278 )

♂ • in older mice

testicular atrophy ( J:204278 )

♂ • in older mice

reduced female fertility ( J:204278 )

♀ • no more than 4 consecutive litters are obtained

reduced male fertility ( J:204278 )

♂ • no more than 4 consecutive litters are obtained

embryo

decreased embryonic epiblast cell proliferation ( J:204278 )

• loss of epiblast in some mice due to reduced proliferation

abnormal embryo development ( J:204278 )

• some mice are highly disorganized at E6.5 to E8

absent embryonic epiblast ( J:204278 )

• loss of epiblast in some mice due to reduced proliferation

craniofacial

abnormal craniofacial morphology ( J:204278 )

• in most mice

broad nasal bridge ( J:204278 )

short snout ( J:204278 )

nervous system

nervous system phenotype ( J:204278 )

N • mice exhibit normal global brain and hippocampus morphology

behavior/neurological

behavior/neurological phenotype ( J:204278 )

♀N • female mice exhibit normal maternal behavior

cellular

decreased embryonic epiblast cell proliferation ( J:204278 )

• loss of epiblast in some mice due to reduced proliferation

endocrine/exocrine glands

small testis ( J:204278 )

♂ • in older mice

testicular atrophy ( J:204278 )

♂ • in older mice

growth/size/body

broad nasal bridge ( J:204278 )

short snout ( J:204278 )

respiratory system

broad nasal bridge ( J:204278 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Williams-Beuren syndrome		DOID:1928	OMIM:194050	J:204278

Genotype
MGI:5532294

ht2

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

behavior/neurological

behavior/neurological phenotype ( J:204278 )

N

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 )