About   Help   FAQ
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 and curated references 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:  15 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:  5 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
MGI 6.11
The Jackson Laboratory