Nr5a2^tm3.1Sjns
Targeted Allele Detail

Summary

• Symbol: Nr5a2^tm3.1Sjns
• Name: nuclear receptor subfamily 5, group A, member 2; targeted mutation 3.1, Kristina Schoonjans
• MGI ID: MGI:5607404
• Synonyms: Lrh-1 K289R
• Gene: Nr5a2 Location: Chr1:136770309-136888186 bp, - strand Genetic Position: Chr1, 59.98 cM, cytoband E4
• Alliance: Nr5a2^tm3.1Sjns page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:215556
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 6 was replaced with a modified exon 6 in which a point mutation (AAG to AGG) results in the amino acid substitution of arginine for lysine at position 289 (K289R) and a floxed neo cassette. Cre-mediated recombination removed the neo cassette. This mutation abolishes SUMOylation of Nr5a2. (J:215556)

Expression

In Mice Carrying this Mutation:

2 RNA-Seq or microarray experiment(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 Nr5a2 Mutation: 94 strains or lines available

References

• Original: J:215556 Stein S, et al., SUMOylation-dependent LRH-1/PROX1 interaction promotes atherosclerosis by decreasing hepatic reverse cholesterol transport. Cell Metab. 2014 Oct 7;20(4):603-13
• All: 1 reference(s)