Gnrhr^tm1Bhr
Targeted Allele Detail

Summary

• Symbol: Gnrhr^tm1Bhr
• Name: gonadotropin releasing hormone receptor; targeted mutation 1, Richard R Behringer
• MGI ID: MGI:5576329
• Synonyms: E⁹⁰Kneo
• Gene: Gnrhr Location: Chr5:86328613-86345760 bp, - strand Genetic Position: Chr5, 43.56 cM
• Alliance: Gnrhr^tm1Bhr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:211771
• Parent Cell Line: RJ2.2 (ES Cell)
• Strain of Origin: (C57BL/6Brd-Tyr^c-Brd x 129S6/SvEvTac)F1

Mutation description

• Allele Type: Targeted (Hypomorph, Inserted expressed sequence)
• Mutation: Insertion
• Mutation details: A G313A point mutation was inserted in exon 1. This results in a Glutamine to Lysine substitution at amino acid residue 90. In addition, a floxed neomycin resistance cassette was inserted in intron 1. (J:211771)

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: 2 reference(s)