Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Mmp20tm1Jdb Name: matrix metallopeptidase 20 (enamelysin); targeted mutation 1, John D Bartlett MGI ID: MGI:2447874 Synonyms: enamelysin- Gene: Mmp20  Location: Chr9:7628232-7674969 bp, + strand  Genetic Position: Chr9, 2.46 cM Alliance: Mmp20tm1Jdb page

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-Hprt1b-m3

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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:	29 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:	15 reference(s)