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Targeted Allele Detail
Symbol: Matn3tm1Mbri
Name: matrilin 3; targeted mutation 1, Michael Briggs
MGI ID: MGI:3759029
Synonyms: Matn3 V194D
Gene: Matn3  Location: Chr12:8947929-8972028 bp, + strand  Genetic Position: Chr12, 3.96 cM
Germline Transmission:  Earliest citation of germline transmission: J:125104
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted
Mutation:    Nucleotide substitutions
Mutation detailsThe amino acid substitution of a valine for an aspartic acid at position 149 (p.Val194Asp) was inserted into exon 2 through nucleotide substitution (GTG to GAT). A floxed neo cassette used as a selectable marker was removed by cre-mediated recombination using the pIC-Cre vector transfected into ES cells. This mutation is equivalent to a human disease causing mutation ioin the A-domain. Correct insertion of the mutation was confirmed by sequencing. (J:125104)
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 Matn3 Mutation:  2 strains or lines available
Original:  J:125104 Leighton MP, et al., Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation. Hum Mol Genet. 2007 Jul 15;16(14):1728-41
All:  3 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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