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| Nomenclature |
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Symbol:
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Matn3tm1Brd
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Name:
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matrilin 3;
targeted mutation 1, Allan Bradley
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MGI ID: |
MGI:3663272 |
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Synonyms: |
Matn3Brdm1, Matn3Brdtm1, Matn3m1 |
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Gene:
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Matn3
Location:
Chr12:8947929-8972028 bp, + strand
Genetic Position: Chr12,
3.96 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:112002
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Parent Cell Line:
| AB2.2 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprtb-m2
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Matn3 Mutation:
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1 strain or line available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
