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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
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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)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory