About   Help   FAQ
Gnrhrtm1.1Bhr
Targeted Allele Detail
Summary
Symbol: Gnrhrtm1.1Bhr
Name: gonadotropin releasing hormone receptor; targeted mutation 1.1, Richard R Behringer
MGI ID: MGI:5576332
Synonyms: GnrhrE90K
Gene: Gnrhr  Location: Chr5:86328613-86345760 bp, - strand  Genetic Position: Chr5, 43.56 cM
Alliance: Gnrhrtm1.1Bhr page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:211771
Parent Cell Line:  RJ2.2 (ES Cell)
Strain of Origin:  (C57BL/6Brd-Tyrc-Brd x 129S6/SvEvTac)F1
Mutation
description
Allele Type:    Targeted (Hypomorph)
Mutation:    Insertion
 
Mutation detailsA G313A point mutation was inserted in exon 1. This results in a Glutamine to Lysine substitution at amino acid residue 90. A floxed neomycin resistance cassette inserted in intron 1 was subsequently removed by cre expression. (J:211771)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 6 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 Gnrhr Mutation:  20 strains or lines available
References
Original:  J:211771 Stewart MD, et al., Mice harboring Gnrhr E90K, a mutation that causes protein misfolding and hypogonadotropic hypogonadism in humans, exhibit testis size reduction and ovulation failure. Mol Endocrinol. 2012 Nov;26(11):1847-56
All:  1 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory