About   Help   FAQ
Col10a1tm1.1Rpbh
Targeted Allele Detail
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
Mutations:    Insertion, Single point mutation
 
Mutation detailsA 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
Loading...
View phenotypes for all genotypes (concatenated display).
Disease models
Loading...
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:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/18/2015
MGI 6.0
The Jackson Laboratory