- abnormal ovary morphology / MGI
- absent corpus luteum / MGI
- increased circulating follicle stimulating hormone level / MGI
- increased circulating luteinizing hormone level / MGI
- female infertility / MGI
- abnormal sexual interaction / MGI
- decreased circulating progesterone level / MGI
- anovulation / MGI
- absent estrous cycle / MGI
- endometrium hyperplasia / MGI
B6.129P2-Afptm1Ibmm/Cnrm
Status | Available to order |
EMMA ID | EM:02388 |
International strain name | B6.129P2-Afptm1Ibmm/Cnrm |
Alternative name | C57BL/6J-Afptm1Ibmm (AFP KO1) |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Afptm1Ibmm |
Gene/Transgene symbol | Afp |
Information from provider
Provider | Claude Szpirer |
Provider affiliation | ULB-IBMM |
Genetic information | Afp KO mice have been generated by Gabant and coworkers (Gabant et al, PNAS, 2002). Those mice were obtained by replacing (through homologous recombination in ES cells) an Afp genomic fragment extending from exon 1 to intron 3 (Afp tm1Ibmm allele) by an IRES-LacZ-Neo selection cassette. The LacZ gene is placed under the control of the Afp principal promoter thus mimicking the expression pattern of the gene. The intronic promoter present in intron 1 of the Afp gene is deleted. |
Phenotypic information | The mice homozygous for the targeted allele are viable, develop normally and show no major phenotypic alterations except for reproduction. Females are sterile (due to anovulation) while males are fertile. Ovaries contain mature follicles and are functional, but lack a proper signal from the hypothalamic-pituitarian axis (HPG) in order to ovulate. There are no signs of corpora lutea and follicles degenerate into cysts. The expression profile of several genes in the HPG is impaired, more precisely the GnRH pathway. Furthermore, AFP KO females are masculinized and defeminized. They exhibit a loss of female sexual behaviour (no lordosis) and a male pattern of tyrosine hydroxylase expressing neurons distribution in some sexual dimorphic areas of the brain. The phenotype of those mice is a consequence of an estrogen overexposure of their brains during the perinatal period and can be reversed if they are treated with anti-estrogens during embryonic development. |
References |
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Information from EMMA
Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Congenital deficiency in alpha-fetoprotein / Orphanet_168612
- Hereditary persistence of alpha-fetoprotein / Orphanet_168615
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- abnormal ovary morphology / MGI
- absent corpus luteum / MGI
- increased circulating follicle stimulating hormone level / MGI
- increased circulating luteinizing hormone level / MGI
- female infertility / MGI
- abnormal sexual interaction / MGI
- decreased incidence of tumors by chemical induction / MGI
- decreased circulating progesterone level / MGI
- anovulation / MGI
- absent estrous cycle / MGI
- endometrium hyperplasia / MGI
- increased liver glycogen level / MGI
- mortality/aging / MGI
Literature references
- Alpha-fetoprotein, the major fetal serum protein, is not essential for embryonic development but is required for female fertility.;Gabant Philippe, Forrester Lesley, Nichols Jennifer, Van Reeth Thierry, De Mees Christelle, Pajack Bernard, Watt Alistair, Smitz Johan, Alexandre Henri, Szpirer Claude, Szpirer Josiane, ;2002;Proceedings of the National Academy of Sciences of the United States of America;99;12865-70; 12297623
- Alpha-fetoprotein protects the developing female mouse brain from masculinization and defeminization by estrogens.;Bakker Julie, De Mees Christelle, Douhard Quentin, Balthazart Jacques, Gabant Philippe, Szpirer Josiane, Szpirer Claude, ;2006;Nature neuroscience;9;220-6; 16388309
- Alpha-fetoprotein controls female fertility and prenatal development of the gonadotropin-releasing hormone pathway through an antiestrogenic action.;De Mees Christelle, Laes Jean-François, Bakker Julie, Smitz Johan, Hennuy Benoît, Van Vooren Pascale, Gabant Philippe, Szpirer Josiane, Szpirer Claude, ;2006;Molecular and cellular biology;26;2012-8; 16479017
- Exposure to oestrogen prenatally does not interfere with the normal female-typical development of odour preferences.;Bakker J, De Mees C, Szpirer J, Szpirer C, Balthazart J, ;2007;Journal of neuroendocrinology;19;329-34; 17425607
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