Txnip^Hyplip1
Spontaneous Allele Detail

Summary

• Symbol: Txnip^Hyplip1
• Name: thioredoxin interacting protein; hyperlipidemia 1
• MGI ID: MGI:2687368
• Synonyms: Txnip^-, txnip^hcb
• Gene: Txnip Location: Chr3:96465273-96469173 bp, + strand Genetic Position: Chr3, 41.93 cM, cytoband F2.2
• Alliance: Txnip^Hyplip1 page

Mutation origin

• Strain of Origin: HcB19/Dem

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Single point mutation
• Mutation details: A 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

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Txnip^Hyplip1

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: 48 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)