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Nr5a1tm1.1Hain
Targeted Allele Detail
Summary
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
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:175843
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsThe 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 5 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 Nr5a1 Mutation:  30 strains or lines available
References
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory