Gene Family ID # Chromosome Chromosome Region*
(NCBI Build 34)
Status Post Date
Flanking Markers Base Pair
repro46 G1-565-6 Chr 9 D9Mit96 to D9Mit301 50826065-56699792

 Limited shelf     availability      

5/14/07
Male
Phenotype

In vitro clinic: Very low testis weight, low seminal vesicle weight, no epididymal sperm recovered.

Histology evaluation: Arrest of spermatogenesis during late pachytene stage of meiotic prophase (see 1),  some seminiferous tubules have only spermatogonia and Sertoli cells present (see 1), some germ cells appear apoptotic (see 2).

Female
Phenotype

In vitro clinic: No oocytes recovered.

Histology evaluation: Tiny ovaries with some follicle activity (see 3), hemorrhagic cysts present in some ovaries (see 4).

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1. Arrest of germ cells; some tubules have only spermatogonia and Sertoli cells

2. Apoptotic germ cells  
     

  3. Tiny ovary

 4. Tiny ovary with homorrhagic cyst

 

*The scope of our funding includes mapping of the mutation to a chromosomal region, but in most cases does not include cloning of the gene responsible for the infertile phenotype.