Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Phox2btm2Jbr
Name:	paired-like homeobox 2b; targeted mutation 2, Jean-Francois Brunet
MGI ID:	MGI:3773691
Synonyms:	Phox2b27Ala
Gene:	Phox2b  Location: Chr5:67251740-67256469 bp, - strand  Genetic Position: Chr5, 35.95 cM
Alliance:	Phox2btm2Jbr page

Germline Transmission:	Earliest citation of germline transmission: J:131365
Parent Cell Line:	P1 (ES Cell)
Strain of Origin:	129S2/SvPas

Allele Type:    Targeted (Humanized sequence) Mutation:    Insertion   Mutation details: Exon 3 was replaced with an exon 3 that contained a 7 alanine expansion of a 20-residue polyalanine chain, mimicking a mutatation found in some congenital central hypoventilation syndrome (CCHS) patients. A floxed neo cassette was also inserted downstream of exon 3. (J:131365)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	2 assay results
In Structures Affected by this Mutation:	3 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Phox2b Mutation:	25 strains or lines available

Original:	J:131365 Dubreuil V, et al., A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons. Proc Natl Acad Sci U S A. 2008 Jan 22;105(3):1067-72
All:	3 reference(s)