Phenotypes associated with this allele

• Allele Symbol: Del(5Gtf2i-Fkbp6)1Vcam
• Allele Name: deletion, Chr 5, Victoria Campuzano 1
• Allele ID: MGI:5555958
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Del(5Gtf2i-Fkbp6)1Vcam/Del(5Gtf2i-Fkbp6)1Vcam	B6.129-Del(5Gtf2i-Fkbp6)1Vcam(J:204278)	MGI:5662390
ht2	Del(5Gtf2i-Fkbp6)1Vcam/+	B6.129-Del(5Gtf2i-Fkbp6)1Vcam(J:204278)	MGI:5662389

Genotype
MGI:5662390

hm1

• Allelic Composition: Del(5Gtf2i-Fkbp6)1Vcam/Del(5Gtf2i-Fkbp6)1Vcam
• Genetic Background: B6.129-Del(5Gtf2i-Fkbp6)1Vcam(J:204278)

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

mortality/aging

embryonic lethality prior to organogenesis, complete penetrance ( J:216195 )

• no embryos are found at E9.5

Genotype
MGI:5662389

ht2

• Allelic Composition: Del(5Gtf2i-Fkbp6)1Vcam/+
• Genetic Background: B6.129-Del(5Gtf2i-Fkbp6)1Vcam(J:204278)

mortality/aging

mortality/aging ( J:216195 )

N • no difference in lifespan

growth/size/body

cardiac hypertrophy ( J:216195 )

• at 3-4 and 9-12 months of age

decreased body weight ( J:216195 )

• at 1 months through 2 years of age

• difference in body weight is larger in males than in females

craniofacial

small mandible ( J:216195 )

behavior/neurological

abnormal learning/memory/conditioning ( J:216195 )

• trend towards improved memory and searching strategy

abnormal habituation ( J:216195 )

• show less habituation to an unfamiliar mice

decreased anxiety-related response ( J:216195 )

• reduced thigmotaxic behavior in a water maze

decreased fear-related response ( J:216195 )

• slight reduction in the freezing time after the conditioning stimulus

abnormal motor capabilities/coordination/movement ( J:216195 )

increased startle reflex ( J:216195 )

• at 120 dB

impaired coordination ( J:216195 )

• significant reduction in the latency to fall off a rotarod

impaired swimming ( J:216195 )

• travel less distance and swim slower in pre-training in a water maze

abnormal physical strength ( J:216195 )

♂ • decrease in motricity tonus strength (measured as a compound of wire maneuver and hindlimb tone) in males

abnormal social investigation ( J:216195 )

• show less habituation to an unfamiliar mice

cardiovascular system

abnormal aorta wall morphology ( J:216195 )

• mild increase in the number of lamellar units at 32 weeks of age

increased aorta wall thickness ( J:216195 )

• mild increase at 32 weeks of age

cardiac hypertrophy ( J:216195 )

• at 3-4 and 9-12 months of age

increased mean systemic arterial blood pressure ( J:216195 )

nervous system

decreased brain weight ( J:216195 )

• decreased by about 9% in males and females

abnormal amygdala morphology ( J:216195 )

♂ • volume is preserved but there is a general decrease in cell density in males that is significant in the basolateral area

♂ • decrease in cell density appears to be due in part to a decrease in GFAP+ cells

abnormal hippocampus morphology ( J:216195 )

abnormal dentate gyrus subgranular zone morphology ( J:216195 )

♂ • increase in the immature neural density in the subgranular zone of the dentate gyrus in adult males

abnormal hippocampus pyramidal cell layer ( J:216195 )

• significant reduction in volume

thin hippocampus stratum oriens ( J:216195 )

• significant reduction in volume

abnormal dendrite morphology ( J:216195 )

♂ • decrease in dendrite length in the hippocampus

abnormal dendritic spine morphology ( J:216195 )

♂ • decrease in spine density in the apical oblique zone in males

liver/biliary system

hepatic steatosis ( J:216195 )

• higher prevalence of steatosis (not statistically significant)

skeleton

small mandible ( J:216195 )

neoplasm

abnormal tumor susceptibility ( J:216195 )

• wider variety of tumors (not statistically significant)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Williams-Beuren syndrome		DOID:1928	OMIM:194050	J:216195