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Phenotypes Associated with This Genotype
Genotype
MGI:5461561
Allelic
Composition
Gtf2ird1Tg(Alb1-Myc)166.8Sst/Gtf2ird1Tg(Alb1-Myc)166.8Sst
Genetic
Background
involves: C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gtf2ird1Tg(Alb1-Myc)166.8Sst mutation (0 available); any Gtf2ird1 mutation (359 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mutants exhibit decreased locomotor activity with increased immobility during the first 5 min of the open field test and decreased immobility during the last 5 min of the session, indicating increased anxiety
• mutants exhibit decreased velocity and decreased number of rearings in a novel environment
• mutants show a longer latency to eat than wild-type mice (hyponeophagia)
• mutants exhibit a longer latency to enter either the light or the dark compartment when beginning the experiment in the dark or light side of the light/dark box, respectively
• mutants display longer immobility and higher % immobility time before the first transition in the light/dark box test
• females are less immobile starting at the light side and more immobile starting at the dark side compared to males
• distance traveled in the light/dark box test is decreased; females are more active in the test than males
• mutants exhibit increased anxiety in all experimental settings
• in the elevated plus maze, females show fewer entries to the open arms, spend less time in the open arms, show decreased number of closed arm entries, decrease in the number and time of head dips, increased grooming time, and an increase in the number and time of stretched approaches in the closed arms
• males do not show abnormalities in the classical measures of anxiety on the elevated plus maze (time and entries into open arms), however, they show fewer head dips and more stretched approaches and longer grooming times, signs of anxiety
• mutant males exhibit an elevated temperature increase 10 minutes after an initial stressor, indicating stress-induced hyperthermia
• mutants exhibit increased grooming time during the elevated plus maze test
• mutants spend longer time self-grooming during a 5 minute test compared to controls, indicating stress-induced grooming
• mutants exhibit decreased motor coordination on all three days of training on the rotarod; females show better motor coordination than males
• mutants show a shorter latency to fall from an inverted screen compared to controls, showing less strength and coordination
• mutants show decreased weight lifting ability, unable to lift the same amount of weight as controls
• males, but not females, show impaired strength in the horizontal bar test
• males exhibit gait abnormalities such as increased variability in step patterns (increased % of single paw support, decreased % of diagonal support, decreased step sequence for alternate and increased for rotary patterns, and increased variability for coupling and phase dispersion), despite normal gait speed, stride length, cadence, and regularity
• hindpaws of males show decreased contact area, print area, stand index, intensity, print length, print width, and duty cycle
• mutants exhibit decreased number of rearings in a novel environment
• mutants exhibit decreased circadian activity (less activity during the dark phase); females however, are more active than males
• mutants are impaired in nest building, leaving up to 50% of the nesting material intact, indicating impaired fine motor skills
• nest building is improved by providing shredded nesting material

growth/size/body
• periorbital fullness
• analyzed only in males
• analyzed only in males

homeostasis/metabolism
• mutant males exhibit an elevated temperature increase 10 minutes after an initial stressor, indicating stress-induced hyperthermia
• stressed males exhibit elevated levels of corticosterone compared to wild-type mice, however no differences in corticosterone levels are seen in non-stressed males

craniofacial
• about 20% of mutants exhibit a misaligned jaw
• periorbital fullness

skeleton
• about 20% of mutants exhibit a misaligned jaw

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Williams-Beuren syndrome DOID:1928 OMIM:194050
J:190478


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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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory