ReproGenomics Mutants

Low/Abnormal Spermatogonia

Gene Family ID # Chromosome Chromosome Region*
(Ensembl Build 33)
Status Post Date
Flanking Markers Base Pair
repro19 G1-472-18 Chr 16 D16Mit165 to D16Mit103 12732404-30793475 Cryopreserved 1/18/05
Male
Phenotype

In vitro clinic:  Low testis weight, low seminal vesicle weight, low epididymal sperm concentration, abnormally shaped sperm heads with missing or short sperm tails, variable motility, very low IVF success.

Histology evaluation: Abnormal spermatogenesis (see 1-3) with low/abnormal spermatogonia and spermatocytes. Abnormal spermiogenesis with abnormal spermatid heads (see 2), low number of spermatids in testis lumen (see 3).

Hormone analysis: High levels of luteinizing hormone and testosterone.

repro22 G1-453-4 Chr 4 D4Mit54 to D4Mit42 136771799-150062357 Cryopreserved 1/4/05
Male
Phenotype

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

Histology evaluation: Germ cell depletion, spermatogonia present but no later spermatogenic stages (see 1-2).

Female
Phenotype

In vitro clinic: No oocytes recovered.

Histology evaluation: Tiny ovaries (see 3-4).

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