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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Del(5Limk1-Trim50)2Uta
deletion, Chr 5, Uta Francke 2
MGI:5317121
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Del(5Limk1-Trim50)2Uta/+ involves: 129S7/SvEvBrd * C57BL/6J MGI:5317145
cx2
Del(5Gtf2i-Limk1)1Uta/Del(5Limk1-Trim50)2Uta involves: 129S7/SvEvBrd * C57BL/6J MGI:5317146


Genotype
MGI:5317145
ht1
Allelic
Composition
Del(5Limk1-Trim50)2Uta/+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(5Limk1-Trim50)2Uta mutation (1 available); any Del(5Limk1-Trim50)2Uta mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some female mice exhibit rectal or vaginal prolapse leading to euthanasia

reproductive system
• vaginal prolapse in some female mice leading to euthanasia

behavior/neurological
• the percent inhibition of startle caused by the presence of a gap in the sound is increased compared to in wild-type mice
• in a partition test, mice exhibit increased social interest compared with wild-type mice

nervous system
N
• mice exhibit normal lateral ventricle size

craniofacial
N
• mice exhibit normal teeth morphology
• 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 in female mice
• mice are less affected than mice carrying Del(5Gtf2i-Limk1)1Uta
• however, male mice exhibit normal body weight
• starting at 2 months and worsening with time
• not as severe as in mice carrying Del(5Gtf2i-Limk1)1Uta and 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




Genotype
MGI:5317146
cx2
Allelic
Composition
Del(5Gtf2i-Limk1)1Uta/Del(5Limk1-Trim50)2Uta
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(5Gtf2i-Limk1)1Uta mutation (1 available); any Del(5Gtf2i-Limk1)1Uta mutation (1 available)
Del(5Limk1-Trim50)2Uta mutation (1 available); any Del(5Limk1-Trim50)2Uta mutation (1 available)
phenotype observed in females
phenotype observed in males
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

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
• 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 ID Ref(s)
Williams-Beuren Syndrome; WBS 194050 J:182796





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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory