hph2
Chemically induced Allele Detail

Summary

• Symbol: hph2
• Name: hyperphenylalaninemia 2
• MGI ID: MGI:1856904
• Gene: hph2 Location: unknown Genetic Position: Chr7, Syntenic
• Alliance: hph2 page

Mutation origin

• Strain of Origin: 129S2/SvPas and BTBR/Pas

Mutation description

• Allele Type: Chemically induced (ENU)
• Inheritance: Recessive

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any hph2 Mutation: 0 strains or lines available

Notes

This mutation causes failure to clear a challenge with phenylalanine, although there is no HPH in the absence of the challenge (J:24469). hph2 homozygotes excrete several neutral amino acids in the urine at more than normal levels, although plasma levels are not elevated. Glutamine uptake by kidney cortex brush border membrane vesicles is slightly reduced, confirming an amino acid transport defect (J:38911).

References

• Original: J:38911 Symula DJ, et al., A candidate mouse model for Hartnup disorder deficient in neutral amino acid transport. Mamm Genome. 1997 Feb;8(2):102-7
• All: 2 reference(s)