Phox2b^tm2Jbr
Targeted Allele Detail

Summary

• Symbol: Phox2b^tm2Jbr
• Name: paired-like homeobox 2b; targeted mutation 2, Jean-Francois Brunet
• MGI ID: MGI:3773691
• Synonyms: Phox2b^27Ala
• Gene: Phox2b Location: Chr5:67251751-67256399 bp, - strand Genetic Position: Chr5, 35.95 cM
• Alliance: Phox2b^tm2Jbr 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)

Disease models

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)