ReproGenomics Mutants

Abnormal/Small Testis

Gene Family ID # Chromosome Chromosome Region*
(Ensembl Build 33)
Status Post Date
Flanking Markers Base Pair
repro14 G1-449-31 Chr 5 D5Mit338 to D5Mit25 107690857-112994570

Cloning in progress,  ReproGenomics      

5/14/07
Male
Phenotype

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

Histology evaluation: Arrest of spermatogenesis predominantly at pachytene stage of meiotic prophase or meiotic division stage (see 1), some germ cells appear apoptotic (see 2).

Female
Phenotype

In vitro clinic: No oocytes recovered.

Histology evaluation: Tiny ovaries with no growing oocytes or follicles (see 3).

repro7 G1-419-29 Chr 17 D17Mit113 to D17Mit197 10619362-18003802

Cloning in progress,   ReproGenomics 

5/14/07
Male
Phenotype

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

Histology evaluation: Arrest of spermatogenesis during mid-pachytene stage of meiotic prophase (see 1), some seminiferous tubules are greatly depleted of germ cells (see 2).

Female
Phenotype

In vitro clinic: No oocytes recovered.

Histology evaluation: Tiny ovaries with few growing oocytes (see 3).

repro4 G1-397-34 Chr 1 D1Mit303 to D1Mit46 63200615-75863523

  Cloning in progress,  ReproGenomics 

5/14/07
Male
Phenotype

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

Histology evaluation: Arrest of spermatogenesis during late pachytene stage of meiotic prophase (see 1), some germ cells appear apoptotic (see 2). 

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).

repro36 G1-569-2 Chr 9 D9Mit71 to D9Mit103 50248563-60611959

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 pachytene stage of meiotic prophase, some tubules are greatly depleted of germ cells (see 1).

Female
Phenotype

In vitro clinic: No oocytes recovered.

Histology evaluation: Tiny ovaries with no growing oocytes or follicles (see 2).

repro57 G1-586-2 Chr 5 D5Mit312 to D5Mit68 95409878-118958939 Cryopreserved 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 germ cells appear apoptotic (see 2).

repro27 G1-499-14 Chr 5 D5Mit155 to D5Mit158 98709249-114072796 Cryopreserved 1/18/05
Male
Phenotype

In vitro clinic: Very low testis weight, very low epididymal sperm concentration, abnormally shaped sperm heads without tails, very low motility, no IVF success.

Histology evaluation: Abnormal spermiogenesis (see 1-3) with vacuoles present throughout tubules, abnormal spermatid heads, low number of spermatids in testis lumen.
repro23 G1-476-14 Chr 7
D7Mit266 to D7Mit247 23698649-32307081 Cryopreserved 1/18/05
Male
Phenotype

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

Histology evaluation: Low/abnormal spermatocytes with arrest of spermatogenesis (see 1) predominantly at pachytene spermatocyte stage (see 2-3).

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).

repro8 G1-419-52 Chr 4 D4Mit204 to D4Mit42 132388267-150062357

   Cloning in progress,  ReproGenomics

8/20/04
Male
Phenotype

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

Histology evaluation: Low/abnormal spermatocytes with arrest of spermatogenesis at early to mid-meiotic prophase (see 1-3). 

repro12 G1-448-15 Chr 5 D5Mit346 to D5Mit349 4885537-23438712 Limited shelf availability 1/3/2004
Male
Phenotype

In vitro clinic: Very low testes weight, low seminal vesicle weight, generally no epididymal sperm but among those recovered, there is a high frequency of head abnormalities and low IVF success.

Histology evaluation: Abnormal spermiogenesis with few elongated spermatids (see 1), abnormal round cells with condensed nuclei in many tubules (see 2).

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