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Tmprss6m2Btlr
Chemically induced Allele Detail
Summary
Symbol: Tmprss6m2Btlr
Name: transmembrane serine protease 6; mutation 2, Bruce Beutler
MGI ID: MGI:3812005
Synonyms: zorro, zro
Gene: Tmprss6  Location: Chr15:78323867-78352834 bp, - strand  Genetic Position: Chr15, 37.49 cM, cytoband E2
Alliance: Tmprss6m2Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis mutation was discovered by its visible phenotype among the G3 progeny of an ENU mutagenized male mouse. The mutation has been identified as a C to T transition in the 15th of the gene's 18 exons, at nucleotide position 2004 (Genbank Accession NM_027902), that converts the codon (CGA) for arginine 599 into a premature termination codon (TGA) (R599Ter), truncating the protein by 212 amino acids at its C terminus and interrupting the protease domain. (J:140084)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
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 Tmprss6 Mutation:  46 strains or lines available
References
Original:  J:140084 Du X, et al., Zorro is a mutation of Tmprss6. MGI Direct Data Submission. 2008;
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
04/16/2024
MGI 6.23
The Jackson Laboratory