Phenotypes Associated with This Genotype

Genotype
MGI:5317146

• Allelic Composition: Del(5Gtf2i-Limk1)1Uta/Del(5Limk1-Trim50)2Uta
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

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

mortality/aging

lethality, incomplete penetrance ( J:182796 )

• fewer than expected mice are produced

premature death ( J:182796 )

• some female mice exhibit rectal or vaginal prolapse leading to euthanasia

reproductive system

abnormal vagina morphology ( J:182796 )

♀ • vaginal prolapse in some female mice leading to euthanasia

behavior/neurological

decreased exploration in new environment ( J:182796 )

• in an open field test

decreased aggression towards mice ( J:182796 )

• in a tube test

increased thigmotaxis ( J:182796 )

impaired coordination ( J:182796 )

• on a rotarod

• on a wire hanging test

abnormal social investigation ( J:182796 )

• in a partition test, mice exhibit increased social interest compared with wild-type mice

• in a three chamber apparatus, mice spend more time in the social chamber compared with wild-type mice

nervous system

decreased brain size ( J:182796 )

decreased brain weight ( J:182796 )

small lateral ventricles ( J:182796 )

• reduced

increased neuron number ( J:182796 )

• mice exhibit an increase in the number of neurons in layer V of the somatosensory cortex compared with wild-type mice

craniofacial

craniofacial phenotype ( J:182796 )

N • mice exhibit normal teeth morphology

abnormal cranium size ( J:182796 )

• foreshortened, more so in female mice than in male mice

decreased cranium width ( J:182796 )

• in the anterior and mid-portions, more so in female mice than in male mice

short face ( J:182796 )

• shortened face

growth/size/body

short face ( J:182796 )

• shortened face

decreased body weight ( J:182796 )

• from P1 to P5 onward

• more severe in male mice than in female mice

• mice are more affect than mice carrying only one of the deletions

herniated abdominal wall ( J:182796 )

• starting at 2 months and worsening with time

• more severe than in mice carrying only Del(5Limk1-Trim50)2Uta

• Background Sensitivity: additional backcrosses to C57BL/6J reduces incidence of hernia

postnatal growth retardation ( J:182796 )

cardiovascular system

abnormal blood vessel physiology ( J:182796 )

• mice exhibit reduced abdominal aortic anterior wall motion compared with wild-type mice

digestive/alimentary system

rectal prolapse ( J:182796 )

• in some female mice leading to euthanasia

skeleton

abnormal cranium size ( J:182796 )

• foreshortened, more so in female mice than in male mice

decreased cranium width ( J:182796 )

• in the anterior and mid-portions, more so in female mice than in male mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Williams-Beuren syndrome		DOID:1928	OMIM:194050	J:182796