MGI phenotypes (allele matching)
B6.129S4-Phox2atm1(Phox2b)Mist/Cnrm
| Status | Available to order |
| EMMA ID | EM:01795 |
| Citation information | RRID:IMSR_EM:01795 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 | B6.129S4-Phox2atm1(Phox2b)Mist/Cnrm |
| Alternative name | F1 |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Phox2atm1(Phox2b)Mist |
| Gene/Transgene symbol | Phox2a |
Information from provider
| Provider | Michèle Studer |
| Provider affiliation | TIGEM (Telethon Institute of Genetics and Medicine) |
| Genetic information | Insertion of Phox2b cDNA into the first exon of the Phox2a locus. |
| Phenotypic information | Defects in III and IV motor nuclei; model of congenital fibrosis of extraocular muscles type 2 (CFEOM2). |
| 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 fibrosis of extraocular muscles / Orphanet_45358
MGI phenotypes (gene matching)
- hypoglycemia / MGI
- decreased motor neuron number / MGI
- small superior cervical ganglion / MGI
- abnormal parasympathetic ganglion morphology / MGI
- abnormal submandibular ganglion morphology / MGI
- small submandibular ganglion / MGI
- abnormal oculomotor nerve morphology / MGI
- abnormal trochlear nerve morphology / MGI
- abnormal facial nerve morphology / MGI
- abnormal cranial ganglia morphology / MGI
- small geniculate ganglion / MGI
- small petrosal ganglion / MGI
- small nodose ganglion / MGI
- small trigeminal ganglion / MGI
- decreased body weight / MGI
- cyanosis / MGI
- postnatal growth retardation / MGI
- abnormal respiration / MGI
- respiratory distress / MGI
- decreased circulating insulin level / MGI
- abnormal autonomic nervous system morphology / MGI
- increased insulin sensitivity / MGI
- no phenotypic analysis / MGI
- abnormal gluconeogenesis / MGI
- nervous system phenotype / MGI
- abnormal locus ceruleus morphology / MGI
- lethargy / MGI
- improved glucose tolerance / MGI
- abnormal glycogen homeostasis / MGI
- increased pulmonary respiratory rate / MGI
- decreased pulmonary respiratory rate / MGI
- increased pulmonary ventilation / MGI
- increased tidal volume / MGI
- abnormal pterygopalatine ganglion morphology / MGI
- abnormal otic ganglion morphology / MGI
- increased neuron number / MGI
- abnormal neuron differentiation / MGI
- abnormal sublingual ganglion morphology / MGI
- mortality/aging / MGI
- postnatal lethality, complete penetrance / MGI
Literature references
- Reciprocal gene replacements reveal unique functions for Phox2 genes during neural differentiation.;Coppola Eva, Pattyn Alexandre, Guthrie Sarah C, Goridis Christo, Studer Michèle, ;2005;The EMBO journal;24;4392-403; 16319924