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ElaneM1Btlr
Chemically induced Allele Detail
Summary
Symbol: ElaneM1Btlr
Name: elastase, neutrophil expressed; mutation 1, Bruce Beutler
MGI ID: MGI:5619132
Synonyms: Ruo
Gene: Elane  Location: Chr10:79722146-79724050 bp, + strand  Genetic Position: Chr10, 39.72 cM
Alliance: ElaneM1Btlr 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 mutagenesis induced an A to G transition at base pair 79,887,108 (v38) on chromosome 10, or base pair 797 in the GenBank genomic region NC_000076. The mutation corresponds to residue 370 in the mRNA sequence NM_015779 within exon 4 of 5 total exons. The mutation results in an aspartic acid (D) to glycine (G) substitution at position 116 (D116G) in the neutrophil elastase protein. (J:218967)
Inheritance:    Semidominant
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 Elane Mutation:  25 strains or lines available
References
Original:  J:218967 Zhang Z, et al., Mutagenetix entry for Ruo. MGI Direct Data Submission. 2015;
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