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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 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:  7 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 6.01
The Jackson Laboratory