Mouse Genome Informatics
hm
    Gtf2ird1tm1Hrd/Gtf2ird1tm1Hrd
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
behavior/neurological
• impaired grasping of an inverted cage lid
• impaired performance on an accelerating rotarod
• in male mice
• in female mice

integument
• extensive hyperplastic thickening of the epidermal layer in the facial region restricted to the lip and nose region
• extensive hyperplastic thickening of the epidermal layer in the facial region restricted to the lip and nose region

homeostasis/metabolism
• during swim stress in female mice

craniofacial
• mice exhibit excess tissue in the nose and lip region due to extensive hyperplastic thickening of the epidermal layer compared with wild-type mice

growth/size
• mice exhibit excess tissue in the nose and lip region due to extensive hyperplastic thickening of the epidermal layer compared with wild-type mice

adipose tissue

muscle
• laryngeal vocalis muscles exhibit increased number of fibers expressing extraocular myosin unlike in wild-type mice

nervous system
• during swim stress, neuron activity in the ventral region of the lateral septum and cingulate cortex is increased in female mice, but not male mice, compared with wild-type mice

respiratory system
• laryngeal vocalis muscles exhibit increased number of fibers expressing extraocular myosin unlike in wild-type mice

Mouse Models of Human Disease
OMIM IDRef(s)
Williams-Beuren Syndrome; WBS 194050 J:182346