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Phox2btm2Jbr
Targeted Allele Detail
Summary
Symbol: Phox2btm2Jbr
Name: paired-like homeobox 2b; targeted mutation 2, Jean-Francois Brunet
MGI ID: MGI:3773691
Synonyms: Phox2b27Ala
Gene: Phox2b  Location: Chr5:67251751-67256399 bp, - strand  Genetic Position: Chr5, 35.95 cM
Alliance: Phox2btm2Jbr page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:131365
Parent Cell Line:  P1 (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 2 assay results
In Structures Affected by this Mutation: 3 anatomical structure(s)
Find Mice (IMSR)
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
References
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)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Funding Information
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory