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| Nomenclature |
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Symbol:
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Phox2btm2Jbr
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Name:
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paired-like homeobox 2b;
targeted mutation 2, Jean-Francois Brunet
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MGI ID: |
MGI:3773691 |
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Synonyms: |
Phox2b27Ala |
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Gene:
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Phox2b
Location:
Chr5:67094397-67099301 bp, - strand
Genetic Position: Chr5,
35.95 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:131365
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Parent Cell Line:
| P1 (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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Mutation details: Exon 3 was replaced with an exon 3 that contained a 7 alanine expansion of a 20-residue polyalanine chain. A floxed neo cassette was also inserted downstream of exon 3. (J:131365)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Phox2b Mutation:
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5 strains or lines available |
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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
