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Ptpn6m1Amgn
Chemically induced Allele Detail
Summary
Symbol: Ptpn6m1Amgn
Name: protein tyrosine phosphatase, non-receptor type 6; mutation 1, Amgen
MGI ID: MGI:4939486
Synonyms: line 4489, Ptpn6I482F, scabby ears
Gene: Ptpn6  Location: Chr6:124697670-124715672 bp, - strand  Genetic Position: Chr6, 59.17 cM
Alliance: Ptpn6m1Amgn page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis induced an A to T transversion in exon 13 that results in the amino acid substitution of phenylalanine for isoleucine at position 482 (I482F). (J:168664)
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Ptpn6 Mutation:  49 strains or lines available
References
Original:  J:168664 Babij P, et al., New variants in the Enpp1 and Ptpn6 genes cause low BMD, crystal-related arthropathy, and vascular calcification. J Bone Miner Res. 2009 Sep;24(9):1552-64
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