Phenotypes Associated with This Genotype

Genotype
MGI:5428426

• Allelic Composition: Gtf2ird1^tm1Hrd/Gtf2ird1^tm1Hrd
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

behavior/neurological

impaired coordination ( J:182346 )

• impaired grasping of an inverted cage lid

• impaired performance on an accelerating rotarod

decreased locomotor activity ( J:182346 )

♀ • in female mice

hyperactivity ( J:182346 )

♂ • in male mice

abnormal vocalization ( J:182346 )

integument

short vibrissae ( J:182346 )

sparse vibrissae ( J:182346 )

epidermal hyperplasia ( J:182346 )

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

thick epidermis ( J:182346 )

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

homeostasis/metabolism

increased circulating corticosterone level ( J:182346 )

♀ • during swim stress in female mice

decreased body temperature ( J:182346 )

craniofacial

abnormal facial morphology ( J:182346 )

• 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

abnormal facial morphology ( J:182346 )

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

decreased body weight ( J:182346 )

abnormal laryngeal muscle morphology ( J:182346 )

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

adipose tissue

decreased total body fat amount ( J:182346 )

♀ • in female mice

muscle

abnormal laryngeal muscle morphology ( J:182346 )

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

nervous system

abnormal neuron physiology ( J:182346 )

♀ • 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

abnormal laryngeal muscle morphology ( J:182346 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Williams-Beuren syndrome		DOID:1928	OMIM:194050	J:182346