Analysis Tools|
Allele Symbol Allele Name Allele ID |
Dp(11Cops3-Rnf112)1Jrl duplication, Chr 11, James R Lupski 1 MGI:3577256 |
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| Summary |
5 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit impaired contextual conditioning (12.6+/-2.5% freezing to context compared to 36.0+/-6.5 in wild-type mice)
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• mice exhibit decreased center to total distance ratio explored (0.26+/-0.01 compared to 0.33+/-0.04 in wild-type mice)
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• in an elevated plus maze
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• mice exhibit decreased vertical activity (305+/-22 incidents compared to 499+/-60 incidences in wild-type mice)
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• mice exhibit increased dominance compared with wild-type mice
• however, mice exhibit normal aggression
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• 6.5 hours after introducing a paper towel to cages, only half of mice build nest compared with all wild-type mice
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• mice exhibit impaired sociability and response to social novelty compared with wild-type mice
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• only half of mice vocalize during handling compared with all wild-type mice
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• at 12 weeks
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• at 12 weeks
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Potocki-Lupski syndrome | DOID:0060853 |
OMIM:610883 |
J:138598 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice are hyperactive
• however, vertical activity, center to total distance ratio explored and contextual conditioning behaviors are normal
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| N |
• craniofacial development is normal unlike in Del(11Cops3-Zfp179)1Jrl heterozygotes
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| N |
• mice have normal body weights unlike in either heterozygote
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice are more active than wild-type mice
• however, anxiety and defective learning and memory behaviors observed in either heterozygote are no longer present
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| N |
• mice have normal body weights unlike in either heterozygote
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| N |
• unlike in Rai1tm1Jrl heterozygotes, there is no evidence of epileptic seizures
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• abdominal fat pad weight is reduced (0.30+/-0.06 g compared to 0.56+/-0.05 g in wild-type mice)
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• 1.2% compared to 2% in wild-type mice
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• mice weigh less than wild-type mice in the first month after birth and the difference in body weight persists for throughout their lifespan
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• 0.056+/-0.006 g compared to 0.070+/-0.004 g in wild-type mice
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• self-injury behavior is observed
• however, no self-injury behavior is observed when mice are single housed
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• male mice, but not female mice, display less freezing following contextual conditioning
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• male mice, but not female mice, exhibit fewer light-dark transitions compared to wild-type mice in a light-dark test
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• mice startle less than wild-type mice
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• mice spend more time moving than wild-type mice
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• male mice, but not female mice, travel further and spend more time moving than wild-type mice
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| N |
• no evidence of epileptic seizures are detected
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| N |
• mice have normal fertility
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| N |
• mice have normal eye development
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• 0.056+/-0.006 g compared to 0.070+/-0.004 g in wild-type mice
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 12/10/2024 MGI 6.24 |
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