ReproGenomics Mutants

Female Mutants

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
Female
Phenotype

In vitro clinic: No oocytes recovered.

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

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).

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

Cloning in progress,   ReproGenomics 

5/14/07
Female
Phenotype

In vitro clinic: No oocytes recovered.

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

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).

repro46 G1-565-6 Chr 9 D9Mit96 to D9Mit301 50826065-56699792

 Limited shelf     availability      

5/14/07
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).

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).

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

Limited shelf availability

5/14/07
Female
Phenotype

In vitro clinic: No oocytes recovered.

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

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).

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

In vitro clinic: No oocytes recovered.

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

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).

repro5 G1-403-16 Chr 16 D16Mit86 to D16Mit106 92299378-97314451

Limited shelf availability

10/23/03
Female
Phenotype

In vitro clinic: Oocytes commonly contain vacuoles; oocytes have low developmental competence to 2-cell and blastocyst stages.

Histology evaluation: Growing and degenerating oocytes commonly contain vacuoles (see 3-4)

Male
Phenotype

In vitro clinic: Low epididymal sperm concentration, low sperm motility, abnormal sperm head morphology, no IVF success.

Histology evaluation: Abnormal spermiogenesis, few spermatids (see1), abnormal sperm heads (see 2).

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