|
|
| Nomenclature |
|
Symbol:
|
Pax9tm1Hpt
|
|
Name:
|
paired box gene 9;
targeted mutation 1, Heiko Peters
|
|
MGI ID: |
MGI:3612401 |
|
Synonyms: |
Pax9neo |
|
Gene:
|
Pax9
Location:
Chr12:56691767-56712822 bp, + strand
Genetic Position: Chr12,
24.53 cM
|
|
Mutation origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:104121
|
|
Parent Cell Line:
| TBV2 (ES Cell) |
|
Strain of Origin:
|
129S2/SvPas
|
|
Mutation description |
|
Allele
Type: | |
Targeted (knock-out) |
|
Mutation: | |
Insertion |
| |
|
Mutation details: An FRT-flanked neomycin resistance cassette was inserted into intron 2. loxP sites were inserted to flank exons 1 and 2. RT-PCR and sequencing revealed the presence of alternatively spliced forms resulting from the splicing of paired box-containing exon 2 to the 3' region of the Pgk1 promoter. With the neo coding region in frame with exon 2 of Pax9, translation of the mRNA predicts and aberrant fusion protein containing the paired domain and the full-length neomycin phosphotransferase, but lacking most of the C-terminal of Pax9. (J:104121)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| 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 Pax9 Mutation:
|
1 strain or line available |
|
| References |
|
Original: |
J:104121
Kist R et al.,
"Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia."
Hum Mol Genet 2005 Dec 1;14(23):3605-17
|
|
All: |
2 reference(s)
|
|