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EnamRgsc514
Chemically induced Allele Detail
Nomenclature
Symbol: EnamRgsc514
Name: enamelin; RIKEN Genomic Sciences Center (GSC), 514
MGI ID: MGI:3055586
Synonyms: Enam2Rgsc, M100514
Gene: Enam  Location: Chr5:88635834-88653908 bp, + strand  Genetic Position: Chr5, 43.66 cM, cytoband E2
Mutation
origin
Strain of Origin:  C57BL/6JJcl
Project Collection: RIKEN GSC ENU Project
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsA single A to G nucleotide substitution in exon 5 leads to substitution of glutamic acid for glycine at amino acid position 57. (J:93014, J:96349)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
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:  51 strains or lines available
References
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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/09/2022
MGI 6.21
The Jackson Laboratory