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Allele : Hpd<hty> 4-hydroxyphenylpyruvic acid dioxygenase; hypertyrosinemia

Primary Identifier  MGI:1856056 Allele Type  Spontaneous
Attribute String  Null/knockout Gene  Hpd
Inheritance Mode  Recessive Strain of Origin  ICRIII
Is Recombinase  false Is Wild Type  false
molecularNote  A C-to-T transition in exon 7 creates a premature TGA termination codon from an arginine codon (p.R111*). Mouse mRNA lacks exon 7 (90 nucleotides in length). Only negligible amounts of truncated protein are produced in the liver.
  • mutations:
  • Single point mutation
  • synonyms:
  • Hpd-,
  • Hpd-
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

8 Publication categories