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Chemically induced Allele Detail
Symbol: EnamRgsc521
Name: enamelin; RIKEN Genomic Sciences Center (GSC), 521
MGI ID: MGI:3055587
Synonyms: Enamtm3Rgsc, M100521
Gene: Enam  Location: Chr5:88487975-88504730 bp, + strand  Genetic Position: Chr5, 43.66 cM, cytoband E2
Strain of Origin:  C57BL/6JJcl
Project Collection: RIKEN GSC ENU Project
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsA T to G nucleotide substitution disrupts a donor splicing signal, which results in a splicing error and a frame shift leading to a new stop codon in exon 5. The transcript is most likely degenerated by activation of the nonsense mediated decay pathway, in which case this is a loss-of-function mutation. (J:93014, J:96349)
Inheritance:    Semidominant
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Enam Mutation:  45 strains or lines available
Original:  J:96349 Masuya H, et al., Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI). Hum Mol Genet. 2005 Mar 1;14(5):575-83
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.11
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