Matn3^tm1Brd
Targeted Allele Detail

Summary

• Symbol: Matn3^tm1Brd
• Name: matrilin 3; targeted mutation 1, Allan Bradley
• MGI ID: MGI:3663272
• Synonyms: Matn3^Brdm1, Matn3^Brdtm1, Matn3^m1
• Gene: Matn3 Location: Chr12:8997929-9022028 bp, + strand Genetic Position: Chr12, 3.96 cM
• Alliance: Matn3^tm1Brd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:112002
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: A stop codon was introduced into exon 2, as well as a neomycin resistance cassette. RT-PCR confirmed the lack of wild-type transcript in mutants. It was demonstrated that exon 1 spliced to exon 3, resulting in a frame shift that would putatively result in a nonsense protein containing only the signal peptide. The allele is concluded to be a null. (J:112002)

Disease models

Expression

In Mice Carrying this Mutation:	6 assay results
In Structures Affected by this Mutation:	2 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:112002 van der Weyden L, et al., Functional knockout of the matrilin-3 gene causes premature chondrocyte maturation to hypertrophy and increases bone mineral density and osteoarthritis. Am J Pathol. 2006 Aug;169(2):515-27
• All: 4 reference(s)