STOCK Phox2btm4Jbr/Orl
| Status | Available to order |
| EMMA ID | EM:07453 |
| International strain name | STOCK Phox2btm4Jbr/Orl |
| Alternative name | Phox2b27Alacki |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Phox2btm4Jbr, |
| Gene/Transgene symbol | Phox2b |
Information from provider
| Provider | Christo Goridis |
| Provider affiliation | IBENS, Ecole normale superieure |
| Genetic information | The normal mouse exon 3 of the Phox2b gene was flanked with loxP sites. Downstream of the polyA addition site, the human PHOX2B exon 3 bearing the expansion by 7 residues of the 20-residue polyalanine stretch that causes congenital central hypoventilation syndrome in man was inserted. The construct was injected into 129S2/SvPas ES cells. |
| Phenotypic information | In Phox2b27Alacki mice, the Phox2b27Ala allele that causes congenital central hypoventilation syndrome in man is expressed conditionally upon prior action of Cre recombinase. In the absence of Cre, homozygous Phox2b27Alacki/27Alacki mice are viable and fertile. Pgk::cre; Phox2b27Alacki/+ mice, in which recombination occurs in the germ line, die at birth from respiratory failure as do constitutive Phox2b27Alacki/+ mutants. Thus, the unrecombined Phox2b27Alacki allele is functionally equivalent to the wild-type allele and the recombined allele to the constitutive Phox2b27Alacki allele. When partnered with a suitable Cre driver, expression of the mutant allele can be directed to a subset of Phox2b-expressing cells. In Egr2cre;Phox2b27Alacki mice, the chemosensitive neurons of the retrotrapezoid nucleus are selectively depleted providing a means for studying their k in the control. |
| Breeding history | Outcrossed for at least 10 generations. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
| Animals used for archiving | heterozygous C57BL/6 x DBA/2 |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Haddad syndrome / Orphanet_99803
- Ondine syndrome / Orphanet_661
Literature references
- Breathing without CO(2) chemosensitivity in conditional Phox2b mutants.;Ramanantsoa Nelina, Hirsch Marie-Rose, Thoby-Brisson Muriel, Dubreuil Véronique, Bouvier Julien, Ruffault Pierre-Louis, Matrot Boris, Fortin Gilles, Brunet Jean-François, Gallego Jorge, Goridis Christo, ;2011;The Journal of neuroscience : the official journal of the Society for Neuroscience;31;12880-8; 21900566