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Matn3tm1Brd
Targeted Allele Detail
Summary
Symbol: Matn3tm1Brd
Name: matrilin 3; targeted mutation 1, Allan Bradley
MGI ID: MGI:3663272
Synonyms: Matn3Brdm1, Matn3Brdtm1, Matn3m1
Gene: Matn3  Location: Chr12:8997929-9022028 bp, + strand  Genetic Position: Chr12, 3.96 cM
Alliance: Matn3tm1Brd page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:112002
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1b-m2
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
05/14/2024
MGI 6.23
The Jackson Laboratory