Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Hal MGI:96010

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.

Human diseases associated with Hal (2 diseases)
Human diseases predicted to be associated with Hal (208 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Histidinemia		Histidinuria, Hyperhistidinemia	OMIM:235800
Histidinemia		Histidinuria, Hyperhistidinemia	ORPHA:2157

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

Disease	Matching phenotypes	Source
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Cystathioninuria	Cystathioninuria	OMIM:219500
Phenylketonuria	Aminoaciduria	ORPHA:716
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Uridine-Cytidineuria	Elevated urinary uridine level, Elevated urinary cytidine	OMIM:618477
Sedoheptulokinase Deficiency	Increased urinary sedoheptulose	OMIM:617213
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:239510
Carnosinemia	Carnosinuria	OMIM:212200
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Saccharopinuria	Citrullinuria, Hyperlysinuria, Histidinuria, Saccharopinuria	OMIM:268700
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	ORPHA:42062
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Threoninemia	Hyperthreoninuria	OMIM:273770
Hydroxykynureninuria	Aminoaciduria	OMIM:236800
Camptodactyly 1	Increased urinary taurine	OMIM:114200
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria	OMIM:204750
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
Homocarnosinosis	Carnosinuria	OMIM:236130
Cerebral Creatine Deficiency Syndrome 3	Organic aciduria	OMIM:612718
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Elevated urinary formiminoglutamic acid level	OMIM:229100
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
5-Oxoprolinase Deficiency	Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis	OMIM:260005
Hyper-Beta-Alaninemia	Increased urinary taurine	OMIM:237400
Hyperprolinemia, Type I	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:239500
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect	Methylmalonic aciduria	OMIM:613646
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
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperlysinuria	OMIM:238750
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
Tyrosinemia Type 1	Generalized aminoaciduria	ORPHA:882
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Homocystinuria	OMIM:236250
Galactosemia Iii	Aminoaciduria, Galactosuria	OMIM:230350
Cystathioninuria	Cystathioninuria, Nephrolithiasis	ORPHA:212
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	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Generalized aminoaciduria	OMIM:606528
Argininemia	Diaminoaciduria	ORPHA:90
Hyperlysinemia, Type I	Hyperlysinuria	OMIM:238700
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria	ORPHA:417
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level	OMIM:605850
Galactose Epimerase Deficiency	Aminoaciduria	ORPHA:79238
Methionine Malabsorption Syndrome	Aminoaciduria	OMIM:250900
Hartnup Disorder	Neutral hyperaminoaciduria	OMIM:234500
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin...	OMIM:618384
Ornithine Transcarbamylase Deficiency	Aminoaciduria	ORPHA:664
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria	ORPHA:33574
Saccharopinuria	Citrullinuria, Hyperlysinuria, Cystinuria	ORPHA:3124
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine	OMIM:266130
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Ketonuria	OMIM:245050
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria	ORPHA:833
Hypertryptophanemia	Tryptophanuria	OMIM:600627
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Aminoaciduria, Lacticaciduria	OMIM:619386
Tyrosinemia, Type Iii	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria	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
Glutathionuria	Urinary incontinence, Glutathionuria	OMIM:231950
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Homocystinuria, Methylmalonic aciduria	OMIM:309541
Galactosemia I	Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine	OMIM:230400
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia	OMIM:604273
Monocarboxylate Transporter 1 Deficiency	Ketonuria	OMIM:616095
Familial Expansile Osteolysis	Hydroxyprolinuria	OMIM:174810
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
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	Hyperoxaluria, Calcium oxalate nephrolithiasis	OMIM:613616
Hypotonia-Cystinuria Syndrome	Nephrolithiasis, Cystinuria	ORPHA:163690
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria	OMIM:616026
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine	OMIM:271980
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	Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy	OMIM:613404
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Histidinuria Due To A Renal Tubular Defect	Impaired histidine renal tubular absorption, Histidinuria	OMIM:235830
Myasthenic Syndrome, Congenital, 22	Cystinuria	OMIM:616224
Dermotrichic Syndrome	Aminoaciduria	ORPHA:99688
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria	ORPHA:2158
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria	ORPHA:163693
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria	OMIM:250620
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Beta-alaninuria, Elevated urinary aminoisobutyric acid, M...	OMIM:614105
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Tyrosinemia, Type Ii	Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria	OMIM:276600
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Cystinosis	Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy	ORPHA:213
Hyperprolinemia Type 2	Hydroxyprolinuria, Renal insufficiency, Prolinuria, Increased urine alpha-ketoglutarate concentra...	ORPHA:79101
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri...	OMIM:252150
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Sialidosis Type 1	Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac...	ORPHA:812
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Leber Congenital Amaurosis 1	Hyperthreoninuria	OMIM:204000
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Homocystinuria, Methylmalonic aciduria	OMIM:236270
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Elevated circulating creatinine concent...	ORPHA:411634
Hawkinsinuria	Hypertyrosinemia, Hawkinsinuria, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria	OMIM:140350
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria	OMIM:249270
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria	OMIM:250940
Gyrate Atrophy Of Choroid And Retina	Aminoaciduria	ORPHA:414
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria	OMIM:273400
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul...	OMIM:227810
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypercalciuria, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular aci...	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	Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular atrophy, Reduced renal cor...	OMIM:208085
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Medium chain dicarboxylic aciduria, Hyperglycinuria	OMIM:201450
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Methylmalonic aciduria	OMIM:251120
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Lacticaciduria, Hy...	OMIM:605711
Hyperparathyroidism, Neonatal Severe	Polyuria, Aminoaciduria, Hyperphosphaturia, Hypercalciuria	OMIM:239200
Diabetes Mellitus, Permanent Neonatal, 3	Ketonuria, Glycosuria	OMIM:618857
Isovaleric Acidemia	Hyperglycinuria	OMIM:243500
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Nephrolithiasis, Cystinuria	OMIM:606407
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Bruck Syndrome 2	Hydroxyprolinuria	OMIM:609220
2,4-Dienoyl-Coa Reductase Deficiency	Hyperlysinuria	OMIM:616034
Glutaric Acidemia Type 3	Glutaric aciduria, Ketonuria	ORPHA:35706
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid...	OMIM:277400
D-Glyceric Aciduria	Aminoaciduria, Micropenis	OMIM:220120
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Homocitrullinuria	OMIM:238970
Hartnup Disease	Abnormal urinary color, Neutral hyperaminoaciduria	ORPHA:2116
Canavan Disease	Elevated urinary N-acetylaspartic acid level	OMIM:271900
Leigh Syndrome	Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal tubular dysfunction, Ren...	ORPHA:506
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne...	OMIM:219800
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Methylmalonic aciduria	OMIM:614857
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine...	OMIM:252160
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Polycystic kidney dysplasia	OMIM:214110
D-Glyceric Aciduria	Hyperglycinuria	ORPHA:941
Citrullinemia, Type Ii, Adult-Onset	Argininosuccinic aciduria	OMIM:603471
Autism, Susceptibility To, 3	Ketonuria	OMIM:608049
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Lacticaciduria, Elevated urine acetoacetic aci...	OMIM:615751
Propionic Acidemia	Increased level of hippuric acid in urine, Hyperglycinuria	OMIM:606054
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria	OMIM:614946
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Ketonuria, Hyperglycinuria, Organic aciduria	OMIM:210210
Fumarase Deficiency	Elevated urine fumaric acid level, Aminoaciduria, Bilateral fetal pyelectasis, Increased urine su...	OMIM:606812
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis	OMIM:214100
Wilson Disease	Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Amino...	OMIM:277900
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Methylmalonic aciduria	OMIM:277410
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Methioninuria, Homocystinuria	OMIM:236200
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninuria, Homocystinuria, Methylmalonic aciduria	OMIM:277380
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria	OMIM:264700
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype...	OMIM:229600
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria	OMIM:616084
Argininosuccinic Aciduria	Aminoaciduria, Oroticaciduria	OMIM:207900
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinuria, Hypercalciuria, Increased urine deoxypyridinoline level	OMIM:239000
Lysinuric Protein Intolerance	Aminoaciduria, Oroticaciduria, Stage 5 chronic kidney disease, Hyperlysinuria	OMIM:222700
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, Alpha-aminoadipic aciduria	OMIM:620089
Molybdenum Cofactor Deficiency, Complementation Group C	Increased urinary taurine	OMIM:615501
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria	OMIM:602080
Argininemia	Diaminoaciduria, Oroticaciduria	OMIM:207800
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria	OMIM:619055
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis	OMIM:617913
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating creatinine concentration, Renal neutrophilic tubulitis, Renal interstitial e...	ORPHA:91500
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi...	ORPHA:534
Hyperlysinemia	Decreased urine alpha-ketoglutarate concentration, Argininuria, Hyperlysinuria, Cystinuria	ORPHA:2203
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria	ORPHA:289157
Lysinuric Protein Intolerance	Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f...	ORPHA:470
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Generalized aminoaciduria	OMIM:251880
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ...	OMIM:309000
Interstitial Lung And Liver Disease	Aminoaciduria	OMIM:615486
Alkaptonuria	Aminoaciduria, Nephrolithiasis	ORPHA:56
X-Linked Intellectual Disability, Armfield Type	Aminoaciduria, Organic aciduria, Galactosuria	ORPHA:85276
Kanzaki Disease	Increased urinary O-linked sialopeptides, Aminoaciduria	OMIM:609242
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Tubulointerstitial nephritis, 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	Recurrent urinary tract infections, Hypospadias, Aminoaciduria, Alpha-aminobutyric aciduria, Hype...	OMIM:619991
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	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.

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
Hal^{tm50511(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us