Mouse Genome Informatics
cx
    Del(5Gtf2i-Limk1)1Uta/Del(5Limk1-Trim50)2Uta
involves: 129S7/SvEvBrd * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• fewer than expected mice are produced
• some female mice exhibit rectal or vaginal prolapse leading to euthanasia

reproductive system
• vaginal prolapse in some female mice leading to euthanasia (J:182796)

behavior/neurological
• on a rotarod
• on a wire hanging test
• 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
• mice exhibit an increase in the number of neurons in layer V of the somatosensory cortex compared with wild-type mice

craniofacial
N
• mice exhibit normal teeth morphology (J:182796)
• foreshortened, more so in female mice than in male mice
• in the anterior and mid-portions, more so in female mice than in male mice
• shortened face

growth/size/body
• shortened face
• 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
• 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

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

digestive/alimentary system
• in some female mice leading to euthanasia

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

Mouse Models of Human Disease
OMIM IDRef(s)
Williams-Beuren Syndrome; WBS 194050 J:182796