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TxnipHyplip1
Spontaneous Allele Detail
Summary
Symbol: TxnipHyplip1
Name: thioredoxin interacting protein; hyperlipidemia 1
MGI ID: MGI:2687368
Synonyms: Txnip-, txniphcb
Gene: Txnip  Location: Chr3:96465273-96469173 bp, + strand  Genetic Position: Chr3, 41.93 cM, cytoband F2.2
Alliance: TxnipHyplip1 page
Mutation
origin
Strain of Origin:  HcB19/Dem
Mutation
description
Allele Type:    Spontaneous (Hypomorph)
Mutation:    Single point mutation
 
Mutation detailsA T-to-A transversion mutation at coding nucleotide 291 in the 1,456-bp cDNA results in a tyrosine (TAT) to a stop codon (TAA) alteration at amino acid 97 (p.Y97*) in the encoded protein. This mutation was absent in the C3H parental strain and all other strains observed. A decreased level of mutant transcript was expressed from this allele. (J:75395)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
Tumor Data
List all tumor models in MMHCdb carrying TxnipHyplip1
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 Txnip Mutation:  49 strains or lines available
References
Original:  J:47109 Castellani LW, et al., Mapping a gene for combined hyperlipidaemia in a mutant mouse strain. Nat Genet. 1998 Apr;18(4):374-7
All:  13 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