Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
4-hydroxyphenylpyruvic acid dioxygenase
Synonyms:
Laf,  Flp,  Fla,  Hppd

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Hpd mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Hpd by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Hpd by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Uridine-Cytidineuria
Elevated urinary uridine level, Elevated urinary cytidine OMIM:618477
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Nephritis, Proteinuria, Elevated circulating creatinine concentration, Sta... OMIM:161900
Tyrosinemia, Type Iii
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia OMIM:276710
Tyrosinemia, Type Ii
Elevated urine N-acetyltyrosine level, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia OMIM:276600
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria ORPHA:42062
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Cystathioninuria
Cystathioninuria OMIM:219500
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Tyrosinosis
Hypertyrosinemia OMIM:276800
Glucoglycinuria
Glycosuria, Hyperglycinuria OMIM:138070
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Hawkinsinuria
4-hydroxyphenylacetic aciduria, Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia OMIM:140350
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... OMIM:614723
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Elevated circu... OMIM:614817
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c... OMIM:123550
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... OMIM:220150
Primary Hyperoxaluria Type 3
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ... ORPHA:93600
Histidinemia
Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia, Histidinuria OMIM:235800
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hyperoxaluria, Nephrocalcinosis, Hypocitraturia, Nephrolithiasis OMIM:620374
Histidinemia
Hyperhistidinemia, Histidinuria ORPHA:2157
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Glomerular sclerosis, Hypertyrosinem... OMIM:276700
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia OMIM:617156
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Ketonuria, Hypertyrosinemia ORPHA:247598
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Lacticaciduria, Aminoaciduria, Tubulointerstitial nephritis, Hypertyrosinemia OMIM:124000
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia OMIM:605814
Hawkinsinuria
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria ORPHA:2118

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hpd

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hpd.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition. Genetics in medicine : official journal of the American College of Medical Genetics (November 2020) Hpdlem1Jgg 33188300

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Hpdem1(IMPC)Bay Exon Deletion Mice
Hpdtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hpdtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Hpdtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hpdtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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