Del(7Ube3a-Snrpn)1Alb
Targeted Allele Detail

Summary

• Symbol: Del(7Ube3a-Snrpn)1Alb
• Name: Deletion, Chr 7, Beaudet 1; deletion, Chr 7, Arthur L Beaudet 1
• MGI ID: MGI:2384048
• Synonyms: Del1Alb, del^S-U, deltaS-U
• Gene: Del(7Ube3a-Snrpn)1Alb Location: Chr7:58878498-59789967 bp Genetic Position: Chr7, Syntenic

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:56617
• 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(7Ube3a-Snrpn)1Alb involves 216 genes/genome features (9330162G02Rik, Ube3a, Snhg14 ...) View all
• Mutation details: Exon 2 of Ube3a was replaced with a Puro-loxP-HPRT cassette via homologous recombination in ES cells carrying an upstream targeted mutation Snrpn^tm3Alb. Deletion of genomic DNA from the loxP site within Snrpn to the loxP site within Ube3a was carried out by transient expression of cre recombinase in correctly targeted ES cells. Homozygous mutant embryos were identified by Southern blot analysis. (J:56617)

Expression

In Structures Affected by this Mutation:

2 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(7Ube3a-Snrpn)1Alb Mutation: 0 strains or lines available

References

• Original: J:56617 Tsai TF, et al., Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. Hum Mol Genet. 1999 Aug;8(8):1357-64
• All: 7 reference(s)