|
Mouse Gene—Target
|
Sex Affected
|
Reproductive Defect
|
Mouse Phenotype
|
Reference
|
Chr
|
| 1. |
Activin receptor-type IIA (Acvr2a) |
Both |
Antral follicle block (F); small testes, delayed initiation of copulation,
reduced mount, and intromission frequencies, and increased mount,
intromission, and ejaculation latencies (M) |
Infertile (F) Subfertile (M) |
Matzuk et al, 1995;
Ma et al, 2005 |
2 |
| 2. |
Anti-Müllerian hormone receptor (Amhr2) |
Male |
Uteri development causes obstruction |
Secondary infertility |
Mishina et al, 1996 |
15 |
| 3. |
Bone morphogenetic protein 15 (Bmp15) |
Female |
Defects in cumulus-oocyte complex formation and ovulation |
Subfertile |
Yan et al, 2001 |
X |
| 4. |
Cyclin A1 (Ccna1) |
Male |
Block in spermatogenesis before the first meiotic division; haploinsufficiency
observed in 129S6/SvEv inbred background |
Infertile |
Liu et al, 1998 |
3 |
| 5. |
Folliculogenesis-specific basic helix-loop-helix (Figla) |
Female |
No primordial follicles develop at birth, and oocytes die |
Infertile |
Soyal et al, 2000 |
6 |
| 6. |
Follistatin (Fst) |
Female |
Presence of male-specific coelomic vessel in ovary and loss of oocytes |
Postnatal lethal |
Yao et al, 2004 |
13 |
| 7. |
Follicle-stimulating hormone β (Fshb) |
Both |
Preantral block in folliculogenesis (F); decreased testis size (M) |
Infertile (F) |
Kumar et al, 1997 |
2 |
| 8. |
Germ cell protein with ankyrin repeats, sterile  and leucine zipper
motifs (Gasz) |
Male |
Disrupted structure of intermitochondrial cement, zygotene-pachytene
spermatocytes block |
Infertile |
Ma et al, 2009 |
6 |
| 9. |
Growth differentiation factor 9 (Gdf9) |
Female |
Folliculogenesis arrest at the 1-layer follicle stage |
Infertile |
Dong et al, 1996;
Elvin et al, 1999 |
11 |
| 10. |
Inhibin (Inha) |
Both |
Granulosa/Sertoli cell tumors, gonadotropin hormone dependent |
Infertile (F) Secondary infertility (M) |
Matzuk et al, 1992 |
1 |
| 11. |
Inhibin/activin βB (Inhbb) |
Female |
Delivery and nursing defects |
Subfertile |
Vassalli et al, 1994 |
1 |
| 12. |
Kelch-like 10 (Klhl10) |
Male (hetero) |
Dysmorphic spermatozoa and impaired motility |
Infertile |
Yan et al, 2004 |
11 |
| 13. |
Luteinizing hormone β (Lhb) |
Both |
Failure of spermatogenesis (M) and folliculogenesis (F) |
Infertile |
Ma et al, 2004 |
7 |
| 14. |
LIM homeobox protein 8 (Lhx8) |
Female |
Primordial to primary follicle block and oocyte loss |
Infertile |
Pangas et al, 2006 |
3 |
| 15. |
NOBOX oogenesis homeobox (Nobox) |
Female |
Primordial to primary follicle block and oocyte loss |
Infertile |
Rajkovic et al, 2004 |
6 |
| 16. |
Nucleophosmin/nucleoplasmin 2 (Npm2) |
Female |
Maternal effect gene; partial block at 1-cell to 2-cell embryo stage |
Subfertile |
Burns et al, 2003 |
14 |
| 17. |
2'-5' Oligoadenylate synthetase 1D (Oas1d) |
Female |
Defects in folliculogenesis and ovulatory efficiency |
Subfertile |
Yan et al, 2005 |
5 |
| 18. |
Oxytocin (Oxf) |
Both |
Maternal nursing defects (F); social memory defect and increased aggression
(M) |
Fertile |
Nishimori et al, 1996 |
19 |
| 19. |
Oxytocin receptor (Oxtr) |
Both |
Maternal nursing defects (F); social memory defect and increased aggression
(M) |
Fertile |
Takayanagi et al, 2005 |
6 |
| 20. |
Platelet-activating factor acetylhydrolase, isoform 1b, beta1 subunit
(Pafah1b1; Lis1) |
Male |
Gene trap insertion; spermiogenic block, spermatids fail to form correct
acrosomes, and nuclei are distorted in size and shape |
Infertile |
Yan et al, 2003 |
11 |
| 21. |
Sma/MAD homolog 5 (Smad5) |
Both |
Developing embryos lose primordial germ cells |
Lethal |
Chang and Matzuk, 2001 |
13 |
| 22. |
Superoxide dismutase 1 (Sod1) |
Female |
Folliculogenesis defect, failure to maintain pregnancy |
Subfertile |
Ho et al, 1998;
Matzuk et al, 1998 |
16 |
| 23. |
Spermatogenesis and oogenesis-specific basic helix-loop-helix 1
(Sohlh1) |
Both |
Spermatogenesis block at meiotic entry (M); primordial to primary follicle
block and oocyte loss (F) |
Infertile |
Pangas et al, 2006 |
2 |
| 24. |
Tektin 3 (Tekt3) |
Male |
Sperm motility defects |
Fertile |
Roy et al, 2009 |
11 |
| 25. |
Tektin 4 (Tekt4) |
Male |
Sperm motility defects and ultrastructural defects in flagellum |
Subfertile |
Roy et al, 2007 |
17 |
| 26. |
Testis-expressed gene 14 (Tex14) |
Male |
Absence of germ cell intercellular bridges; meiotic defects and block at
pachytene stage |
Infertile |
Greenbaum et al, 2006 |
11 |
| 27. |
Y-box protein 2 (Ybx2; Msy2) |
Both |
Elongating spermatid arrest (M); follicular atresia, oocyte loss, anovulation
(F) |
Infertile |
Yang et al, 2005 |
11 |
| 28. |
Zygote arrest 1 (Zar1) |
Female |
Maternal effect gene, block at 1-cell to 2-cell embryo stage |
Infertile |
Wu et al, 2003b |
5 |
| 29. |
Zona pellucida—binding protein (Zpbp) |
Male |
Abnormal acrosome and globozoospermia |
Infertile |
Lin et al, 2007 |
11 |
30.
|
Zona pellucida—binding protein 2 (Zpbp2)
|
Male
|
Abnormal acrosome formation and sperm head defects
|
Subfertile
|
Lin et al, 2007
|
11
|
|
| Abbreviations: Chr, mouse chromosome location of the gene; hetero,
haploinsufficiency phenotype observed in heterozygous mice; F, female; M,
male. |
| aMutations were generated by using embryonic stem cell knockout technology and
were created and/or phenotypically characterized by the Matzuk laboratory.
Only the first reference is cited. Definitions: asthenozoospermia, reduced
sperm motility; azoospermia, no sperm; globozoospermia, rounded sperm head;
oligozoospermia, low sperm counts; teratozoospermia, abnormal sperm head
morphology. |
