Hpd^hty
Spontaneous Allele Detail

Summary

• Symbol: Hpd^hty
• Name: 4-hydroxyphenylpyruvic acid dioxygenase; hypertyrosinemia
• MGI ID: MGI:1856056
• Synonyms: Hpd-
• Gene: Hpd Location: Chr5:123309870-123320786 bp, - strand Genetic Position: Chr5, 62.82 cM
• Alliance: Hpd^hty page

Mutation origin

• Strain of Origin: ICRIII

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Single point mutation
• Mutation details: 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. (J:22863)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Hpd Mutation: 32 strains or lines available

References

• Original: J:14313 Katoh H, et al., Hereditary hypertyrosinemia mouse. Mouse Genome. 1991;89:572
• All: 7 reference(s)