This strain is segregating for Gnrh1hpg.
Mice homozygous for the hypogonadal mutation (Gnrh1hpg) are characterized by an overall underdevelopment of the reproductive tract. Male mice have a small penis and scrotum and a short ano-genital distance. All male reproductive organs are present but are immature. The testes are small and undescended. Spermatogenesis is arrested, usually by the diplotene stage. The vagina of female mice does not open fully, the uterus is thread-like, and the ovaries are very small. Homozygous mutant mice are deficient in LH, FSH, and gonadal steroids. They also exhibit aberrant PRL secretion patterns. Both sexes are sterile although fertility can be restored with hormone replacement.
Origin: WG Beamer, 1988 following hysterectomy and fostering on B6D2 of a stock carrying hpg (hypogonadal) mutation obtained from Bruce Cattanach.
Male and female mice heterozygous for Gnrh1hpg were mated to produce embryos for cryopreservation in 2008.
|Allele Name||retinal degeneration 1|
|Allele Synonym(s)||Pdebrd1; rd; rd1; rd-1; rodless retina|
|Gene Symbol and Name||Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide|
|Strain of Origin||various|
|General Note||The following inbred strains are known to be homozygous for Pde6b |
|Molecular Note||Two mutations have been identified in rd1 mice. A murine leukimia virus (Xmv-28) insertion in reverse orientation in intron 1 is found in all mouse strains with the rd1 phenotype. Further, a nonsense mutation (C-to-A transversion) in codon 347 that results in a truncation eliminating more than half of the predicted encoded protein, including the catalytic domain, has been identified in all rd1 strains of mice. A specific degradation of mutant transcript during or after pre-mRNA splicing is suggested.|
|Allele Synonym(s)||Gnrh-; gnrhhpg; hpg|
|Gene Symbol and Name||Gnrh1, gonadotropin releasing hormone 1|
|Strain of Origin||C3H101H-Rb(1.3)1Bnr|
|Molecular Note||The mutation in the hypogonadal mouse is an approximately 33.5 kb deletion that removes two exons that encode most of the protein.|
Homozygotes are infertile.
When using the HPG/BmJ mouse strain in a publication, please include JAX stock #000804 in your Materials and Methods section.