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Targeted Allele Detail
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
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+
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)
View phenotypes for all genotypes (concatenated display).
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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
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)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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