Trf^hpx
Spontaneous Allele Detail

Summary

• Symbol: Trf^hpx
• 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: Trf^hpx page

Mutation origin

• Strain of Origin: BALB/cJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A 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

Disease models

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: 42 strains or lines available

References

• Original: J:64456 Bernstein SE, hpx - hypotransferrinemia with hemochromatosis. Mouse News Lett. 1986;75:29
• All: 34 reference(s)