| Status | Available to order |
| EMMA ID | EM:02388 |
| Citation information | RRID:IMSR_EM:02388 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| 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 |
| 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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| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Orphanet associated rare diseases, based on orthologous gene matching
