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Tmprss6hem8
Chemically induced Allele Detail
Summary
Symbol: Tmprss6hem8
Name: transmembrane serine protease 6; haematopoietic 8
MGI ID: MGI:5822806
Synonyms: hemm08Jus
Gene: Tmprss6  Location: Chr15:78323867-78352834 bp, - strand  Genetic Position: Chr15, 37.49 cM, cytoband E2
Alliance: Tmprss6hem8 page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Mutagenesis for Dev. Defects
Mutation
description
Allele Type:    Chemically induced (ENU) (Hypomorph)
Mutation:    Single point mutation
 
Mutation detailsSequencing of mutant mice revealed an A856T transversion mutation that resulted in an Ile286Phe (I286F) substitution that impaired in vitro protease activity. Ile286 is a highly conserved residue in the first CUB domain of the encoded protein. (J:237155)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 anatomical structure(s)
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 Tmprss6 Mutation:  46 strains or lines available
References
Original:  J:237155 Bartnikas TB, et al., Identification and characterization of a novel murine allele of Tmprss6. Haematologica. 2013 Jun;98(6):854-61
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
11/12/2024
MGI 6.24
The Jackson Laboratory