|
|
| Nomenclature |
|
Symbol:
|
Col10a1tm1.1Rpbh
|
|
Name:
|
collagen, type X, alpha 1;
targeted mutation 1.1, Raymond P Boot-Handford
|
|
MGI ID: |
MGI:4397569 |
|
Synonyms: |
COL10A1 p.Asn617Lys |
|
Gene:
|
Col10a1
Location:
Chr10:34389981-34397085 bp, + strand
Genetic Position: Chr10,
18.85 cM, cytoband B1-B3
|
|
Mutation
origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:154052
|
|
Parent Cell Line:
| R1 (ES Cell) |
|
Strain of Origin:
|
(129X1/SvJ x 129S1/Sv)F1-Kitl+
|
|
Mutation
description |
|
Allele
Type: | |
Targeted (knock-in) |
|
Mutations: | |
Insertion, Single point mutation |
| |
|
Mutation details: A mutation (C to A) was introduced by site-directed mutagenesis. This resulted in an asparagine to lysine change at amino acid residue 617. In addition, a floxed Neo-TK selection cassette was inserted in exon 3 after the region encoding the collagenous domain. The presence of the mutation was confirmed by direct sequencing. Transient transfection with cre recombinase removed the floxed Neo-TK selection cassette. (J:154052)
|
|
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 Col10a1 Mutation:
|
3 strains or lines available |
|
| References |
|
Original: |
J:154052
Rajpar MH et al.,
"Targeted induction of endoplasmic reticulum stress induces cartilage pathology."
PLoS Genet 2009 Oct;5(10):e1000691
|
|
All: |
2 reference(s)
|
|
Analysis Tools
