Del(11Cops3-Gid4)2Jrl
Targeted Allele Detail

Summary

• Symbol: Del(11Cops3-Gid4)2Jrl
• Name: deletion, Chr 11, James R Lupski 2
• MGI ID: MGI:3521986
• Synonyms: Del(11Csn3-4933439F18Rik)2Jrl, Del2Jrl, Df(11)17-1
• Gene: Del(11Cops3-Gid4)2Jrl Location: unknown Genetic Position: Chr11, Syntenic

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:94405
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Intergenic deletion, Intragenic deletion
• Del(11Cops3-Gid4)2Jrl involves 24 genes/genome features (Gm27511, Gm27711, Gm16062 ...) View all
• 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)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Del(11Cops3-Gid4)2Jrl Mutation: 0 strains or lines available

References

• 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
• All: 3 reference(s)