|
|
| Nomenclature |
|
Symbol:
|
Urostm1Cged
|
|
Name:
|
uroporphyrinogen III synthase;
targeted mutation 1, Cecile Ged
|
|
MGI ID: |
MGI:3619379 |
|
Synonyms: |
UrosP248Q |
|
Gene:
|
Uros
Location:
Chr7:133686243-133710072 bp, - strand
Genetic Position: Chr7,
77.26 cM
|
|
Mutation
origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:105776
|
|
Parent Cell Line:
| H1 (ES Cell) |
|
Strain of Origin:
|
129S2/SvPas
|
|
Mutation
description |
|
Allele
Type: | |
Targeted (knock-in) |
|
Mutation: | |
Insertion |
| |
|
Mutation details: A targeting vector was used to insert a neo into intron 9 and a P248Q missense mutation encoded by a CCA to CAA substitution in exon 10. (J:105776)
|
|
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)
|
| References |
|
Original: |
J:105776
Ged C et al.,
"A knock-in mouse model of congenital erythropoietic porphyria."
Genomics 2006 Jan;87(1):84-92
|
|
All: |
1 reference(s)
|
|
Analysis Tools
