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Trfhpx
Spontaneous Allele Detail
Nomenclature
Symbol: Trfhpx
Name: transferrin; hypotransferrinemia with hemochromatosis
MGI ID: MGI:1856905
Synonyms: HP, hpx, hypotransferrinemic
Gene: Trf  Location: Chr9:103204001-103230444 bp, - strand  Genetic Position: Chr9, 55.03 cM, cytoband F1-F3
Mutation
origin
Strain of Origin:  BALB/cJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA G-to-A point mutation at the splice donor site of exon 16 results in a 27 bp in-frame deletion in the transript. 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 structures
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:  20 strains or lines available
References
Original:  J:64456 Bernstein SE, hpx - hypotransferrinemia with hemochromatosis. Mouse News Lett. 1986;75:29
All:  28 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/15/2018
MGI 6.12
The Jackson Laboratory