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Trfhpx
Spontaneous Allele Detail
Summary
Symbol: Trfhpx
Name: transferrin; hypotransferrinemia with hemochromatosis
MGI ID: MGI:1856905
Synonyms: HP, hpx, hypotransferrinemic
Gene: Trf  Location: Chr9:103086075-103107485 bp, - strand  Genetic Position: Chr9, 55.03 cM, cytoband F1-F3
Alliance: Trfhpx page
Mutation
origin
Strain of Origin:  BALB/cJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA G-to-A point mutation in the first nucleotide of intron 16 eliminates exon 16 splice donor site C-GT by changing it to C-AT. This results in mis-splicing, including the use of a cryptic splice donor 27 bp upstream, deleting 9 codons. A small amount of mutant protein is detectable. (J:63638)
Inheritance:    Recessive
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: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Trf Mutation:  39 strains or lines available
References
Original:  J:64456 Bernstein SE, hpx - hypotransferrinemia with hemochromatosis. Mouse News Lett. 1986;75:29
All:  34 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
03/12/2024
MGI 6.23
The Jackson Laboratory