About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Dp(11Cops3-Rnf112)1Jrl
duplication, Chr 11, James R Lupski 1
MGI:3577256
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Dp(11Cops3-Rnf112)1Jrl/Dp(11Cops3-Rnf112)1Jrl involves: 129S7/SvEvBrd * C57BL/6 MGI:3758694
cx2
Dp(11Cops3-Rnf112)1Jrl/0
Tyrc-Brd/Tyrc-Brd
B6Brd.Cg-Tyrc-Brd Dp(11Cops3-Rnf112)1Jrl MGI:3758726
cx3
Dp(11Cops3-Rnf112)1Jrl/Del(11Cops3-Rnf112)1Jrl involves: 129S7/SvEvBrd * C57BL/6 MGI:3758693
cx4
Dp(11Cops3-Rnf112)1Jrl/0
Rai1tm1Jrl/Rai1+
involves: 129S/SvEvBrd * 129S7/SvEvBrd * C57BL/6 MGI:3758727
ot5
Dp(11Cops3-Rnf112)1Jrl/0 involves: 129S7/SvEvBrd * C57BL/6 MGI:3758692


Genotype
MGI:3758694
hm1
Allelic
Composition
Dp(11Cops3-Rnf112)1Jrl/Dp(11Cops3-Rnf112)1Jrl
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dp(11Cops3-Rnf112)1Jrl mutation (1 available); any Dp(11Cops3-Rnf112)1Jrl mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• mice weigh even less than wild-type mice compared to Dp(11Cops3-Zfp179)1Jrl heterozygotes in the first month after birth and the difference in body weight persists for throughout their lifespan




Genotype
MGI:3758726
cx2
Allelic
Composition
Dp(11Cops3-Rnf112)1Jrl/0
Tyrc-Brd/Tyrc-Brd
Genetic
Background
B6Brd.Cg-Tyrc-Brd Dp(11Cops3-Rnf112)1Jrl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dp(11Cops3-Rnf112)1Jrl mutation (1 available); any Dp(11Cops3-Rnf112)1Jrl mutation (1 available)
Tyrc-Brd mutation (6 available); any Tyr mutation (375 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice exhibit impaired contextual conditioning (12.6+/-2.5% freezing to context compared to 36.0+/-6.5 in wild-type mice)
• mice exhibit decreased center to total distance ratio explored (0.26+/-0.01 compared to 0.33+/-0.04 in wild-type mice)
• in an elevated plus maze
• mice exhibit decreased vertical activity (305+/-22 incidents compared to 499+/-60 incidences in wild-type mice)
• mice exhibit increased dominance compared with wild-type mice
• however, mice exhibit normal aggression
• 6.5 hours after introducing a paper towel to cages, only half of mice build nest compared with all wild-type mice
• mice exhibit impaired sociability and response to social novelty compared with wild-type mice
• only half of mice vocalize during handling compared with all wild-type mice

nervous system
• at 12 weeks

growth/size/body
• at 12 weeks

adipose tissue

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Potocki-Lupski syndrome DOID:0060853 OMIM:610883
J:138598




Genotype
MGI:3758693
cx3
Allelic
Composition
Dp(11Cops3-Rnf112)1Jrl/Del(11Cops3-Rnf112)1Jrl
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(11Cops3-Rnf112)1Jrl mutation (1 available); any Del(11Cops3-Rnf112)1Jrl mutation (1 available)
Dp(11Cops3-Rnf112)1Jrl mutation (1 available); any Dp(11Cops3-Rnf112)1Jrl mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice are hyperactive
• however, vertical activity, center to total distance ratio explored and contextual conditioning behaviors are normal

craniofacial
N
• craniofacial development is normal unlike in Del(11Cops3-Zfp179)1Jrl heterozygotes

growth/size/body
N
• mice have normal body weights unlike in either heterozygote




Genotype
MGI:3758727
cx4
Allelic
Composition
Dp(11Cops3-Rnf112)1Jrl/0
Rai1tm1Jrl/Rai1+
Genetic
Background
involves: 129S/SvEvBrd * 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dp(11Cops3-Rnf112)1Jrl mutation (1 available); any Dp(11Cops3-Rnf112)1Jrl mutation (1 available)
Rai1tm1Jrl mutation (1 available); any Rai1 mutation (73 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice are more active than wild-type mice
• however, anxiety and defective learning and memory behaviors observed in either heterozygote are no longer present

growth/size/body
N
• mice have normal body weights unlike in either heterozygote

nervous system
N
• unlike in Rai1tm1Jrl heterozygotes, there is no evidence of epileptic seizures




Genotype
MGI:3758692
ot5
Allelic
Composition
Dp(11Cops3-Rnf112)1Jrl/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dp(11Cops3-Rnf112)1Jrl mutation (1 available); any Dp(11Cops3-Rnf112)1Jrl mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
adipose tissue
• abdominal fat pad weight is reduced (0.30+/-0.06 g compared to 0.56+/-0.05 g in wild-type mice)
• 1.2% compared to 2% in wild-type mice

growth/size/body
• mice weigh less than wild-type mice in the first month after birth and the difference in body weight persists for throughout their lifespan

hematopoietic system
• 0.056+/-0.006 g compared to 0.070+/-0.004 g in wild-type mice

behavior/neurological
• self-injury behavior is observed
• however, no self-injury behavior is observed when mice are single housed
• male mice, but not female mice, display less freezing following contextual conditioning
• male mice, but not female mice, exhibit fewer light-dark transitions compared to wild-type mice in a light-dark test
• mice startle less than wild-type mice
• mice spend more time moving than wild-type mice
• male mice, but not female mice, travel further and spend more time moving than wild-type mice

nervous system
N
• no evidence of epileptic seizures are detected

reproductive system
N
• mice have normal fertility

vision/eye
N
• mice have normal eye development

immune system
• 0.056+/-0.006 g compared to 0.070+/-0.004 g in wild-type mice





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/16/2024
MGI 6.23
The Jackson Laboratory