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Gene: Hal MGI:96010

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
histidine ammonia lyase
Synonyms:
Hsd,  histidase

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Hal 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 Hal by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Histidinemia
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia OMIM:235800
Histidinemia
Histidinuria, Hyperhistidinemia ORPHA:2157

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Indolylacroyl Glycinuria With Impaired Intellectual Development
Hyperglycinuria OMIM:243050
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria ORPHA:42062
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Cystathioninuria
Cystathioninuria OMIM:219500
Dibasic Amino Aciduria I
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria OMIM:222690
Uridine-Cytidineuria
Elevated urinary uridine level, Elevated urinary cytidine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Carnosinemia
Carnosinuria OMIM:212200
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Saccharopinuria
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Citrullinuria OMIM:268700
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Hydroxykynureninuria
Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level OMIM:236800
Threoninemia
Hyperthreoninuria OMIM:273770
Camptodactyly 1
Increased urinary taurine OMIM:114200
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
2-hydroxyadipic aciduria, Alpha-aminoadipic aciduria OMIM:204750
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Histidinemia
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia OMIM:235800
Homocarnosinosis
Carnosinuria OMIM:236130
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level OMIM:229100
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine, Prolinuria OMIM:260005
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:239500
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Increased level of L-pyroglutamic acid in urine OMIM:231900
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Alpha-Methylacetoacetic Aciduria
Elevated urinary 2-methyl-3-hydroxybutyric acid level OMIM:203750
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Dibasicaminoaciduria OMIM:238750
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Elevated urine N-acetyltyrosine level, Hypertyrosinemia OMIM:276600
Valinemia
Valinuria OMIM:277100
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Muscular Dystrophy, Cardiac Type
Carnosinuria OMIM:309930
Histidinemia
Histidinuria, Hyperhistidinemia ORPHA:2157
Gracile Syndrome
Aminoaciduria OMIM:603358
Hartnup Disorder
Elevated urinary indoleacetic acid level, Neutral hyperaminoaciduria OMIM:234500
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria OMIM:236250
Cystathioninuria
Cystathioninuria, Nephrolithiasis ORPHA:212
Galactosemia Iii
Aminoaciduria, Galactosuria OMIM:230350
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria OMIM:615158
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Argininemia
Diaminoaciduria ORPHA:90
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction OMIM:606528
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Hyperlysinemia, Type I
Hyperlysinuria, Cystinuria, Ornithinuria, Argininuria, Homocitrullinuria OMIM:238700
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Galactose Epimerase Deficiency
Aminoaciduria ORPHA:79238
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level OMIM:605850
Methionine Malabsorption Syndrome
Aminoaciduria OMIM:250900
Ornithine Transcarbamylase Deficiency
Aminoaciduria ORPHA:664
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine alpha-ketoglutarate concentration, Elevated urine N-acetylaspartic acid level, In... OMIM:618384
Saccharopinuria
Hyperlysinuria, Cystinuria, Citrullinuria ORPHA:3124
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine OMIM:266130
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Hypertryptophanemia
Tryptophanuria OMIM:600627
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Renal insufficiency, Lacticaciduria OMIM:619386
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Tyrosinemia, Type Iii
4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria, Hypertyrosinemia OMIM:276710
Lipoyltransferase 1 Deficiency
Alaninuria, Hyperglutaminuria, Lacticaciduria OMIM:616299
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy OMIM:612075
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Lacticaciduria OMIM:604273
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Homocystinuria, Methylmalonic aciduria OMIM:309541
Monocarboxylate Transporter 1 Deficiency
Ketonuria OMIM:616095
Phenylketonuria
Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in urine, El... OMIM:261600
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Glutathionuria
Urinary incontinence, Glutathionuria OMIM:231950
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis OMIM:620374
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Galactosemia I
Aminoaciduria, Galactosuria, Albuminuria, Increased level of galactitol in urine OMIM:230400
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Phenylketonuria
Phenylalaninuria ORPHA:716
Glycine Encephalopathy 1
Hyperglycinuria OMIM:605899
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile ORPHA:391417
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria ORPHA:23
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria OMIM:609560
Hyperoxaluria, Primary, Type Iii
Calcium oxalate nephrolithiasis, Hyperoxaluria OMIM:613616
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine OMIM:271980
Hypotonia-Cystinuria Syndrome
Cystinuria, Nephrolithiasis ORPHA:163690
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria OMIM:616026
Sarcosinemia
Hypersarcosinuria ORPHA:3129
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria ORPHA:1933
Sulfite Oxidase Deficiency, Isolated
Sulfocysteinuria, Decreased urinary sulfate, Increased urinary sulfite level OMIM:272300
Tryptophanuria With Dwarfism
Tryptophanuria OMIM:276100
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Proteinuria OMIM:613404
Hereditary Orotic Aciduria
Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria ORPHA:30
Severe Canavan Disease
Elevated urine N-acetylaspartic acid level ORPHA:314911
D-Lactic Aciduria With Gout
Elevated urine D-lactate level, Lacticaciduria OMIM:245450
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
Myasthenic Syndrome, Congenital, 22
Cystinuria OMIM:616224
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary 3-hydroxybutyric acid, Methylma... OMIM:614105
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption ORPHA:2158
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... ORPHA:3337
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
2P21 Microdeletion Syndrome
Cystinuria, Nephrolithiasis ORPHA:163693
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hydroxyprolinuria, Prolin... ORPHA:79101
Cystinosis
Nephropathy, Aminoaciduria, Renal insufficiency, Renal tubular dysfunction, Proteinuria ORPHA:213
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Isovaleric Acidemia
Hyperglycinuria, Elevated urinary isovalerylglycine level OMIM:243500
Molybdenum Cofactor Deficiency, Type A
Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine level, Decreas... OMIM:252150
Leber Congenital Amaurosis 1
Hyperthreoninuria OMIM:204000
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Sialidosis Type 1
Aminoaciduria, Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosac... ORPHA:812
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Homocystinuria, Methylmalonic aciduria OMIM:236270
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... ORPHA:436271
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria OMIM:249270
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Elevated urinary 7-hydroxyoctanoic acid level, Medium chain dicarboxylic aciduria OMIM:201450
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,... ORPHA:411634
Hawkinsinuria
Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria, Hypertyrosinemia OMIM:140350
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria ORPHA:414
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... OMIM:231680
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria OMIM:273400
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... OMIM:220110
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperphosphaturia, Re... OMIM:227810
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... ORPHA:47159
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Hyp... ORPHA:2088
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria OMIM:614520
Multiple Mitochondrial Dysfunctions Syndrome 3
Beta-aminoisobutyric aciduria OMIM:615330
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Methylmalonic aciduria OMIM:612073
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Ren... OMIM:208085
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria OMIM:251120
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Alpha-aminoadipic aciduria, L... OMIM:605711
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Cystinuria, Nephrolithiasis OMIM:606407
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... ORPHA:411629
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hypercalciuria, Polyuria, Hyperphosphaturia OMIM:239200
Bruck Syndrome 2
Hydroxyprolinuria OMIM:609220
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Methylmalonic aciduria OMIM:250940
Glutaric Acidemia Type 3
Glutaric aciduria, Ketonuria ORPHA:35706
2,4-Dienoyl-Coa Reductase Deficiency
Hyperlysinuria OMIM:616034
Hartnup Disease
Neutral hyperaminoaciduria, Abnormal urinary color ORPHA:2116
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Homocitrullinuria OMIM:238970
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Glycosuria OMIM:618857
D-Glyceric Aciduria
Aminoaciduria, Micropenis OMIM:220120
Leigh Syndrome
Generalized aminoaciduria, Methylmalonic aciduria, Renal tubular acidosis, Renal tubular dysfunct... ORPHA:506
Canavan Disease
Elevated urine N-acetylaspartic acid level OMIM:271900
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria OMIM:614857
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Medullary... OMIM:219800
Molybdenum Cofactor Deficiency, Type B
Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine level, Xanthin... OMIM:252160
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Polycystic kidney dysplasia OMIM:214110
Citrullinemia, Type Ii, Adult-Onset
Argininosuccinic aciduria OMIM:603471
D-Glyceric Aciduria
Hyperglycinuria ORPHA:941
Fumarase Deficiency
Aminoaciduria, Elevated urine fumaric acid level, Bilateral fetal pyelectasis, Increased urine su... OMIM:606812
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Elevated urinary 3-hydr... OMIM:615751
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Methylmalonic aciduria, Cystathioninuria, Renal... OMIM:277400
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine OMIM:606054
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria OMIM:614946
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Homocystinuria, Methylmalonic aciduria OMIM:277410
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Hydronephrosis, Albuminuria, Hypospadias, Renal cortical microcysts OMIM:214100
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Ketonuria, Organic aciduria OMIM:210210
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria, Methioninuria OMIM:236200
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Methylmalonic aciduria, Cystathioninuria OMIM:277380
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria OMIM:264700
Fructose Intolerance, Hereditary
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Hyperphosphaturia, Hyperuricosuria, Pr... OMIM:229600
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis OMIM:616084
Paget Disease Of Bone 5, Juvenile-Onset
Hypercalciuria, Increased urine deoxypyridinoline level, Hydroxyprolinuria OMIM:239000
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Elevated urine acetoacetic acid level, Alpha-aminoadipic aciduria, 3-Methylglutaconic aciduria OMIM:620089
Lysinuric Protein Intolerance
Aminoaciduria, Oroticaciduria, Hyperlysinuria, Stage 5 chronic kidney disease OMIM:222700
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria OMIM:207900
Molybdenum Cofactor Deficiency, Type C
Increased urinary taurine OMIM:615501
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria OMIM:602080
Wilson Disease
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Nephrolithiasis, Protein... OMIM:277900
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria OMIM:619055
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hydronephrosis OMIM:617913
Argininemia
Oroticaciduria, Diaminoaciduria OMIM:207800
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Elevated circulating creatinine concentr... ORPHA:91500
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Renal insufficiency, Nephrolithiasis, Hematu... ORPHA:534
Hyperlysinemia
Hyperlysinuria, Cystinuria, Argininuria, Decreased urine alpha-ketoglutarate concentration ORPHA:2203
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Oroticaciduria, Decreased glomerular filtratio... ORPHA:470
Interstitial Lung And Liver Disease
Aminoaciduria OMIM:615486
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie... OMIM:309000
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria ORPHA:289157
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria OMIM:251880
Kanzaki Disease
Aminoaciduria, Increased urinary O-linked sialopeptides OMIM:609242
X-Linked Intellectual Disability, Armfield Type
Aminoaciduria, Galactosuria, Organic aciduria ORPHA:85276
Alkaptonuria
Aminoaciduria, Dark urine, Elevated urinary homogentisic acid, Nephrolithiasis ORPHA:56
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Tubulointerstitial nephritis, Hypertyrosinemia, Aminoaciduria, Lacticaciduria OMIM:124000
Xeroderma Pigmentosum
Aminoaciduria ORPHA:910
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized aminoaciduria ORPHA:404454
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Homocystinuria ORPHA:395
Liver Disease, Severe Congenital
Aminoaciduria, Recurrent urinary tract infections, Hyperechogenic kidneys, Hydronephrosis, Alpha-... OMIM:619991
Traboulsi Syndrome
Homocystinuria OMIM:601552
Aspartylglucosaminuria
Aspartylglucosaminuria ORPHA:93
Aspartylglucosaminuria
Aspartylglucosaminuria OMIM:208400

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 Hal

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 Hal.

No publications found that use IMPC mice or data for Hal.

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MGI Allele Allele Type Produced
Haltm50511(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Halem1(IMPC)Bay Exon Deletion Mice

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