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Phenotypes Associated with This Genotype
Genotype
MGI:5428426
Allelic
Composition
Gtf2ird1tm1Hrd/Gtf2ird1tm1Hrd
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gtf2ird1tm1Hrd mutation (0 available); any Gtf2ird1 mutation (327 available)
phenotype observed in females
phenotype observed in males
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/body
• 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 ID Ref(s)
Williams-Beuren Syndrome; WBS 194050 J:182346


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory