|
|
| 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 details: A 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
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
| References |
|
Original: |
J:64456
Bernstein SE,
"hpx - hypotransferrinemia with hemochromatosis"
Mouse News Lett 1986;75():29
|
|
All: |
26 reference(s)
|
|
Analysis Tools
