ReproGenomics Mutants

Abnormal Spermiogenesis

Gene Family ID # Chromosome Chromosome Region*
(Ensembl Build 33)
Status Post Date
Flanking Markers Base Pair
repro3 G1-397-28 Chr 10 D10Mit38 to D10Mit194 44256482-47007195 Cryopreserved 5/14/07
Male
Phenotype

In vitro clinic: Low epididymal sperm concentration, many sperm have abnormally shaped heads, sperm tails are short, no sperm motility, no IVF success.

Histology evaluation: Abnormal spermiogenesis (see 1) characterized by abnormally shaped sperm heads and abnormal tail morphology.

Publication: Lessard C, Lothrop H, Schimenti JC, Handel MA. Mutagenesis-generated mouse models of human infertility with abnormal sperm. Hum Reprod. 2007 Jan;22(1):159-66. Epub 2006 Aug 18.

repro2 G1-374-15 Chr 5 D5Mit68 to D5Mit65 118958939-122584115 Cryopreserved 5/14/07
Male
Phenotype

In vitro clinic: Very low epididymal sperm concentration, many sperm have abnormally shaped heads or no  heads, sperm tails are short or curled, no sperm motility, no IVF success.

Histology evaluation: Abnormal spermiogenesis (see 1) characterized by abnormally shaped spermatid heads and abnormal tail morphology.

Publication: Lessard C, Lothrop H, Schimenti JC, Handel MA. Mutagenesis-generated mouse models of human infertility with abnormal sperm. Hum Reprod. 2007 Jan;22(1):159-66. Epub 2006 Aug 18.

repro34 G1-536-1 Chr 5 D5Mit138 to D5Mit372 124262463-131316975 Cryopreserved 1/20/06
Male
Phenotype

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

Histology evaluation: Abnormal spermiogenesis with accumulation of meiotic division-phase spermatocytes and degenerating round spermatids present in multinucleated cell bodies (see 1). 

repro32 G1-510-4 Chr 6 D6Mit135 to D6Mit14 129525082-146588817 On the shelf 10/13/05
Male
Phenotype

In vitro clinic: Low epididymal sperm concentration, abnormally shaped sperm heads, low number of sperm with tails, very low sperm motility, very low IVF success.

Histology evaluation: Abnormal spermiogenesis, abnormal vesicles containing multiple spermatid heads present in seminiferous tubules (see 1) and epididymal lumen (see 2).

repro29 G1-485-3 Chr 5
D5Mit240 to D5Mit98 108167726-137190943 Cryopreserved 5/4/05
Male
Phenotype

In vitro clinic:  Low seminal vesicle weight, low epididymal sperm concentration, abnormally shaped sperm heads with and without tails, very low sperm motility, very low IVF success. 

Histology evaluation:  Abnormal spermiogenesis (see1-3) with abnormal spermatid head shape (see 2), low number of elongating spermatids (see 3).

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.

repro 26 G1-497-1 Chr 3 D3Mit221 to D3Mit179 7875675-31412338 Cryopreserved 1/18/05
Male
Phenotype

In vitro clinic: Low testis weight, very low epididymal sperm concentration, abnormally shaped sperm heads with and without tails, very low motility, very low IVF success.

Histology evaluation: Abnormal spermiogenesis (see 1-3) with abnormal "hammer-head" shape of elongating spermatid heads (see2-3), low number of spermatids in testis lumen (see 2-3).

repro28 G1-492-1 Chr 9 D9Mit299 to D9Mit259 49538217-69961900 Cryopreserved 1/18/05
Male
Phenotype

In vitro clinic:  Normal testis weight, low seminal vesicle weight, low epididymal sperm concentration, abnormally shaped sperm heads, sperm with kinked tails and without tails, very low sperm motility, very low IVF success.

Histology evaluation:  Abnormal spermiogenesis (see 1-3) with abnormal spermatid head shape (see 2-3).

repro20 G1-492-3 Chr 9 D9Mit89 to D9Mit299 29368996-49538217 Cryopreserved 8/20/04
Male
Phenotype

In vitro clinic:  Low testis weight, very low epididymal sperm concentration, poor sperm motility, abnormally shaped sperm heads with short or absent tails, no IVF success.

Histology evaluation: Abnormal spermiogenesis with abnormal elongated spermatid heads (see 1-2), loss of sperm tails (see 1).

repro17 G1-464-23 Chr 17 D17Mit175 to D17Mit66 30343204-45241036 Cryopreserved 8/20/04
Male
Phenotype

In vitro clinic: Low epididymal sperm concentration, low sperm motility, abnormally shaped sperm heads with short tails, poor IVF success. 

Histology evaluation: Primarily normal spermatogenesis.  Some abnormal spermiogenesis with abnormal spermatid head shape (see 1).

repro21 G1-492-8 Chr 17 D17Mit197 to D17Mit66 18003678-45241036 Cryopreserved 8/20/04
Male
Phenotype

In vitro clinic: Low testes weight, very low epididymal sperm concentration, no sperm motility, abnormally shaped sperm heads with no tails, no IVF success. 

Histology evaluation: Abnormal spermiogenesis, with abnormal spermatid heads without tails (see 1-2), low number of spermatids in testis lumen (see 3).

repro15 G1-449-32 Chr 11 D11Mit231 to D11Mit140 35481820-53956337 Cryopreserved 1/15/04
Male
Phenotype

In vitro clinic: low body weight, all epididymal sperm have abnormal head morphology, no IVF success. 

Histology evaluation: Abnormal spermiogenesis with abnormal shaped spermatid heads abundant in testis (see 1), few elongated spermatids in some tubules (see 2), severe spermatogenesis impairment in some tubules (see 3); abnormal cells in the epididymal lumen (see 4).

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).

repro13 G1-449-20 Chr 7 D7Mit76 to D7Mit247 15863631-32307081 Cryopreserved 10/23/03
Male
Phenotype

In vitro clinic:  Low epididymal sperm concentration, abnormal sperm heads, low IVF success.

Histology evaluation:  Abnormal spermiogenesis with elongated spermatid heads (see 1).

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

Limited shelf availability

10/23/03
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).

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)

repro10 G1-422-35 Chr 4 D4Mit164 to D4Mit178 59345690-66273219

Cryopreserved

10/23/03
Male
Phenotype

In vitro clinic: Low body weight, variable epididymal sperm concentration, low sperm motility, low IVF success.

Histology evaluation: Spermatogenesis predominantly normal with some abnormal spermiogenesis reflected in spermatid heads.

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