Mouse Genome Informatics
hm
    Gtf2ird1Tg(Alb1-Myc)166.8Sst/Gtf2ird1Tg(Alb1-Myc)166.8Sst
involves: C57BL/6J * CBA/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
behavior/neurological
• mutants exhibit decreased circadian activity (less activity during the dark phase); females however, are more active than males
• 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
• 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
• mutant males exhibit an elevated temperature increase 10 minutes after an initial stressor, indicating stress-induced hyperthermia (J:190478)
• 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
• mutants exhibit decreased number of rearings in a novel environment
• 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 (J:190478)
• hindpaws of males show decreased contact area, print area, stand index, intensity, print length, print width, and duty cycle (J:190478)
• 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
• analyzed only in males (J:190478)
• analyzed only in males (J:190478)

homeostasis/metabolism
• mutant males exhibit an elevated temperature increase 10 minutes after an initial stressor, indicating stress-induced hyperthermia (J:190478)
• stressed males exhibit elevated levels of corticosterone compared to wild-type mice, however no differences in corticosterone levels are seen in non-stressed males (J:190478)

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

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

vision/eye
• periorbital fullness

Mouse Models of Human Disease
OMIM IDRef(s)
Williams-Beuren Syndrome; WBS 194050 J:190478