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Targeted Allele Detail
Symbol: Mmp20tm1Jdb
Name: matrix metallopeptidase 20 (enamelysin); targeted mutation 1, John D Bartlett
MGI ID: MGI:2447874
Synonyms: enamelysin-
Gene: Mmp20  Location: Chr9:7628231-7674968 bp, + strand  Genetic Position: Chr9, 2.46 cM
Enamel delaminates from the dentin surface in Mmp20tm1Jdb/Mmp20tm1Jdb mouse molars

Show the 3 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:80925
Parent Cell Line:  HM-1 (ES Cell)
Strain of Origin:  129P2/OlaHsd-Hprtb-m3
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsSequence 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Mmp20 Mutation:  6 strains or lines available
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
All:  7 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.0
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