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| Nomenclature |
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Symbol:
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Del(11Cops3-Gid4)2Jrl
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Name:
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deletion, Chr 11, James R Lupski 2
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MGI ID: |
MGI:3521986 |
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Synonyms: |
Del(11Csn3-4933439F18Rik)2Jrl, Del2Jrl, Df(11)17-1 |
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Gene:
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Del(11Cops3-Gid4)2Jrl
Location:
unknown
Genetic Position: Chr11,
Syntenic
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:94405
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Parent Cell Line:
| AB2.2 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprtb-m2
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Mutation description |
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Allele
Type: | |
Targeted (other) |
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Mutation: | |
Intergenic deletion |
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Mutation details: A deletion between Cops3 and Gid4 (previously, 4933439F18Rik) was engineered in ES cells by insertion of complementary partial Hprt-loxP constructs at each site. Insertion at Cops3 was specifically targeted whereas insertion in intron 3 of Gid4 was a random insertion brought about using a V15 retrovirus. Cre recombinase actived deleted the intervening region and reconstructed the Hprt minigene for selection purposes. Two additional, phenotypically identical, deletions were created in which the loxP-Hprt partial gene was inserted in intron 5 of Gid4 (MGI:3521943 and MGI:3521944). (J:94405)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Del(11Cops3-Gid4)2Jrl Mutation:
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0 strains or lines available |
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| References |
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Original: |
J:94405
Yan J et al.,
"Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome."
Hum Mol Genet 2004 Nov 1;13(21):2613-24
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All: |
3 reference(s)
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