Matn3^tm1Mbri
Targeted Allele Detail

Summary

• Symbol: Matn3^tm1Mbri
• Name: matrilin 3; targeted mutation 1, Michael Briggs
• MGI ID: MGI:3759029
• Synonyms: Matn3 V194D
• Gene: Matn3 Location: Chr12:8997929-9022028 bp, + strand Genetic Position: Chr12, 3.96 cM
• Alliance: Matn3^tm1Mbri page

Mutation origin

• 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⁺

Mutation description

• Allele Type: Targeted
• Mutation: Nucleotide substitutions
• Mutation details: The 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)

Disease models

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

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: 26 strains or lines available

References

• 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: 6 reference(s)