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Edardl-2Btlr
Chemically induced Allele Detail
Summary
Symbol: Edardl-2Btlr
Name: ectodysplasin-A receptor; downless 2 Bruce Beutler
MGI ID: MGI:6200340
Synonyms: two-tone
Gene: Edar  Location: Chr10:58436611-58511476 bp, - strand  Genetic Position: Chr10, 29.37 cM, cytoband B3
Alliance: Edardl-2Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsENU-induced A to T transversion at base pair 58,603,179 (v38) on chromosome 10, or base pair 72,518 in the GenBank genomic region NC_000076.6. The mutation corresponds to residue 1,289 in the mRNA sequence NM_010100 within exon 12 of 12 total exons. The mutation results in a serine to cysteine substitution at position 344 (S344C) in the EDAR protein. (J:265254)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Edar Mutation:  30 strains or lines available
References
Original:  J:265254 Keef J, et al., Mutagenetix entry for two-tone. MGI Direct Data Submission. 2018;
All:  1 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
12/10/2024
MGI 6.24
The Jackson Laboratory