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Allele : Trf<hpx> transferrin; hypotransferrinemia with hemochromatosis

Primary Identifier  MGI:1856905 Allele Type  Spontaneous
Gene  Trf Inheritance Mode  Recessive
Strain of Origin  BALB/cJ Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • hpx,
  • HP,
  • hypotransferrinemic,
  • HP,
  • hpx,
  • hypotransferrinemic
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

35 Publication categories

Trail: Allele