Rr70^tm1Alb
Targeted Allele Detail

Summary

• Symbol: Rr70^tm1Alb
• Name: regulatory region 70; targeted mutation 4, Arthur L Beaudet
• MGI ID: MGI:3617404
• Synonyms: AS-IC^an, Snrpn^tm4Alb
• Gene: Rr70 Location: unknown Genetic Position: Chr7, Syntenic
• Alliance: Rr70^tm1Alb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:105289
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutation: Insertion
• Mutation details: Exons 3-9 of the Hprt minigene, a loxP site and a puromycin resistance gene cassette were inserted 13 kb upstream of exon 1. The mutation also included a 6 kb genomic duplication of the 7-13 kb upstream sequence. Maternal inheritance of this allele leads to Snrpn imprinting defects, leaving the maternal Snrpn allele unmethylated. (J:105289)

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 Rr70 Mutation: 0 strains or lines available

References

• Original: J:105289 Wu MY, et al., Mouse imprinting defect mutations that model Angelman syndrome. Genesis. 2006 Jan;44(1):12-22
• All: 2 reference(s)