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

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
Alliance:	EnamRgsc514 page

Strain of Origin:	C57BL/6JJcl
Project Collection:	RIKEN GSC ENU Project

Allele Type:    Chemically induced (ENU) Mutation:    Single point mutation   Mutation details: A single A-to-G nucleotide substitution in exon 5 leads to substitution of glutamic acid for glycine at amino acid position 57 (p.E57G). (J:93014, J:96349) Inheritance:    Dominant

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: 1 strain available      Cell Lines: 0 lines available
Carrying any Enam Mutation:	71 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)