Gnrhr^hh
Chemically induced Allele Detail

Summary

• Symbol: Gnrhr^hh
• Name: gonadotropin releasing hormone receptor; hypogonadotrophic hypogonadism
• MGI ID: MGI:3574585
• Gene: Gnrhr Location: Chr5:86328613-86345760 bp, - strand Genetic Position: Chr5, 43.56 cM
• Alliance: Gnrhr^hh page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This allele has a T to C transition in exon 1, 350 bp downstream of the start codon, causing a leucine to proline substitution at position 117, at the N-terminal junction of the third transmembrane domain. Real-time RT-PCR indicated that mRNA levels are 8-fold higher in homozygous mutants. (J:96941)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

15 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:96941 Pask AJ, et al., A novel mouse model of hypogonadotrophic hypogonadism: N-ethyl-N-nitrosourea-induced gonadotropin-releasing hormone receptor gene mutation. Mol Endocrinol. 2005 Apr;19(4):972-81
• All: 4 reference(s)