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Tmprss6tm1Dgen
Targeted Allele Detail
Summary
Symbol: Tmprss6tm1Dgen
Name: transmembrane serine protease 6; targeted mutation 1, Deltagene
MGI ID: MGI:4457116
Synonyms: Tmprss6-
Gene: Tmprss6  Location: Chr15:78323867-78352834 bp, - strand  Genetic Position: Chr15, 37.49 cM, cytoband E2
Alliance: Tmprss6tm1Dgen page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:160248
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129P2/OlaHsd
Project Collection: Deltagen
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe genomic sequence spanning the 3' portion of exon 16 to the 5' portion of exon 17 was replaced. This deletion removed 74 amino acids of the protease domain. This allele is expected to produce a protein lacking protease activity. Reduced expression of a transcript lacking the targeted region was confirmed by QRT-PCR. (J:160248)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 7 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:160248 Finberg KE, et al., Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis. Blood. 2010 May 6;115(18):3817-26
All:  5 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
03/19/2024
MGI 6.23
The Jackson Laboratory