Ubiad1^tm1Radb
Targeted Allele Detail

Summary

• Symbol: Ubiad1^tm1Radb
• Name: UbiA prenyltransferase domain containing 1; targeted mutation 1, Russell A DeBose-Boyd
• MGI ID: MGI:6369078
• Synonyms: Ubiad1^Ki
• Gene: Ubiad1 Location: Chr4:148518952-148529217 bp, - strand Genetic Position: Chr4, 78.76 cM, cytoband E1
• Alliance: Ubiad1^tm1Radb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:275120
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Humanized sequence, Hypomorph)
• Mutation: Single point mutation
• Mutation details: An A to G (c.299A>G) mutation was engineered to change asparagine codon 100 to a serine codon (p.N100S). This mutation mimics the p.N102S mutation found in human Schnyder corneal dystrophy (SCD) patients. (J:275120)

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 Ubiad1 Mutation: 24 strains or lines available

References

• Original: J:275120 Jo Y, et al., Schnyder corneal dystrophy-associated UBIAD1 inhibits ER-associated degradation of HMG CoA reductase in mice. Elife. 2019 Feb 20;8:e44396
• All: 1 reference(s)