MGI phenotypes (allele matching)
B6.129S4-Phox2atm1(Phox2b)Mist/Cnrm
| Status | Available to order |
| EMMA ID | EM:01795 |
| 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