Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Nr5a1tm1.1Hain
Name:	nuclear receptor subfamily 5, group A, member 1; targeted mutation 1.1, Holly A Ingraham
MGI ID:	MGI:5292676
Synonyms:	Sf-12KR
Gene:	Nr5a1  Location: Chr2:38582668-38604554 bp, - strand  Genetic Position: Chr2, 24.42 cM
Alliance:	Nr5a1tm1.1Hain page

Germline Transmission:	Earliest citation of germline transmission: J:175843
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	Not Specified

Allele Type:    Targeted Mutations:    Insertion, Nucleotide substitutions   Mutation details: The 2 SUMO consensus sites (K119 and K194) in exon 3 were mutated to arginine (R) residues and a floxed neo cassette was inserted downstream of exon 3 via homologous recombination. Cre mediated recombination removed the neo cassette. Tissues in homozygous mice showed a pronounced loss of sumoylated protein species. (J:175843)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 anatomical structure(s)

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 Nr5a1 Mutation:	30 strains or lines available

Original:	J:175843 Lee FY, et al., Eliminating SF-1 (NR5A1) sumoylation in vivo results in ectopic hedgehog signaling and disruption of endocrine development. Dev Cell. 2011 Aug 16;21(2):315-27
All:	2 reference(s)