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| Nomenclature |
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Symbol:
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Mmp20tm1Jdb
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Name:
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matrix metallopeptidase 20 (enamelysin);
targeted mutation 1, John D Bartlett
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MGI ID: |
MGI:2447874 |
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Synonyms: |
enamelysin- |
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Gene:
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Mmp20
Location:
Chr9:7628231-7674968 bp, + strand
Genetic Position: Chr9,
2.46 cM
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Enamel delaminates from the dentin surface in Mmp20tm1Jdb/Mmp20tm1Jdb mouse molars
Show the 3 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:80925
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Parent Cell Line:
| HM-1 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd-Hprtb-m3
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Sequence encompassing a portion of intron 4 and all of exon 5 was replaced with a Hprt minigene inserted by homologous recombination. The deleted region encoded the conserved zinc-binding site of the catalytic domain. Northern blot analysis of total RNA obtained from homozygous mutant incisor homogenates indicated a lack of transcript containing exon 5. Enamelysin activity was undetected by zymography of proteins isolated from molars of postnatal homozygous mutant mice. (J:80925)
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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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| References |
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Original: |
J:80925
Caterina JJ et al.,
"Enamelysin (matrix metalloproteinase 20)-deficient mice display an amelogenesis imperfecta phenotype."
J Biol Chem 2002 Dec 20;277(51):49598-604
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All: |
5 reference(s)
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Analysis Tools
