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Gene: Itga1 MGI:96599

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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:
integrin alpha 1
Synonyms:
E130012M19Rik,  Vla1,  CD49A

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 Itga1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Itga1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrotic Syndrome, Type 3
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... OMIM:619263
Nephrotic Syndrome, Type 9
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Nephrotic Syndrome, Type 6
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c... OMIM:614196
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... OMIM:617609
Nephrotic Syndrome, Type 8
Hypoalbuminemia, Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidne... OMIM:615244
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid... OMIM:615008
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Chronic k... ORPHA:656
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria,... OMIM:256300
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, IgA depos... OMIM:616730
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid... ORPHA:567548
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidn... OMIM:603278
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, P... OMIM:618349
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Reni Syndrome
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ... OMIM:617575
Fibronectin Glomerulopathy
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom... ORPHA:84090
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... ORPHA:567544
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Chronic kidney disease, Nephropathy, Elevated circulating cre... OMIM:617056
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mesangial hypercellularity OMIM:620425
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... OMIM:614455
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Glycosuria, Renal tubular cyst, Elevated circulating creatinine concentration, ... OMIM:614817
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... OMIM:174000
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:619468
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:136680
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... OMIM:617731
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:618347
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia, Proteinuria, Nephrotic syndrome OMIM:614652
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis OMIM:619603
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia OMIM:609886
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, H... OMIM:179800
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli... ORPHA:439232
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... ORPHA:79233
Alport Syndrome
Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m... ORPHA:63
Senior-Loken Syndrome 1
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:266900
Frasier Syndrome
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... ORPHA:347
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomer... OMIM:617729
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Proteinuria, Ab... OMIM:123550
Dent Disease
Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerul... ORPHA:1652
Pauci-Immune Glomerulonephritis
Acute kidney injury, Elevated circulating creatinine concentration, Decreased glomerular filtrati... ORPHA:93126
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Abnormal renal corticomedullary differentiation, R... OMIM:616733
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... OMIM:615605
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias OMIM:619428
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuri... OMIM:254900
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glome... ORPHA:567546
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration, Proteinur... OMIM:607426
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mild proteinuria OMIM:301108
Senior-Loken Syndrome 8
Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, Stage 5 chronic kidn... OMIM:616307
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... OMIM:300539
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:614376
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:613095
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Decreased serum creatinine ORPHA:54057
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse me... OMIM:251300
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... OMIM:223900
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis OMIM:179830
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... OMIM:602522
Xanthinuria, Type Ii
Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le... OMIM:603592
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:276621
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Crescentic glomerulonephritis, Mesangial h... OMIM:616414
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration OMIM:616239
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Hyperur... OMIM:232200
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Alg1-Cdg
Hypoalbuminemia, Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney ORPHA:79327
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Thickened glomerular basement membrane, Recurrent urinary tract infections, Hype... OMIM:619487
Preeclampsia
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Renal... ORPHA:275555
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypophosphatemic ri... OMIM:276700
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Elevated circulating creatinine concentration, Glomerular sclerosis, Proteinuria ORPHA:247691
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... OMIM:609049
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Hyperuricemia,... OMIM:162000
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephritis, Proteinuria, Patent ductus arteri... OMIM:617303
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:29072
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis OMIM:314000
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Elevated circulating creatinine concentr... ORPHA:85450
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... OMIM:120330
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Hyperur... OMIM:232220
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 chron... ORPHA:1830
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Hy... OMIM:232240
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, ... ORPHA:49041
Relapsing Fever
Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu... ORPHA:91547
Diarrhea 13
Hypoalbuminemia OMIM:620357
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... OMIM:620138
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Hyperuricemia, Re... OMIM:603860
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthr... ORPHA:247598
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ... OMIM:274150
Juvenile Nephropathic Cystinosis
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopath... ORPHA:411634
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Elevated circulating creatinine concentr... OMIM:137920
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Immunodeficiency 115 With Autoinflammation
Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce... OMIM:620632
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre... OMIM:235400
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Renal cyst, Proximal tubulopathy OMIM:602579
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis OMIM:102700
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:242900
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal ... OMIM:614748
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc... ORPHA:64753
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Increased total bilirubin, Elevated circulating creatinine concentration, Decrea... OMIM:608836
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Hydronephrosis... OMIM:154230
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Diffuse Alveolar Hemorrhage
Hematuria, Elevated circulating creatinine concentration, Proteinuria ORPHA:90060
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hyperechogenic kidneys, Elevated circulating creatinine concentration, Reduced haptoglobin level,... OMIM:301110
Liver Failure, Infantile, Transient
Hypoalbuminemia, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Lacti... OMIM:613070
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Hyperammonemia, Hydronephrosis, Decreased serum zinc, Duplicated collecting syst... OMIM:617093
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Polycystic kidney dysplasia OMIM:608776
Citrullinemia Type Ii
Hypoalbuminemia, Enuresis, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperam... ORPHA:247585
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Patent ductus arteriosus OMIM:608104
Car T Cell Therapy-Associated Cytokine Release Syndrome
Decreased urine output, Elevated circulating creatinine concentration, Acute kidney injury, Hyper... ORPHA:542323
Wolcott-Rallison Syndrome
Hypoalbuminemia, Chronic kidney disease, Hyperbilirubinemia, Renal insufficiency, Hyperammonemia,... ORPHA:1667
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Hematuria, Patent ductus arteriosus OMIM:617021
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis OMIM:300323
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Recurrent urinary tract infections, Elevated circulating creatinine concentratio... ORPHA:36234
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati... OMIM:616050
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Decreased retinol-binding protein level, Urinary bla... ORPHA:449395
Cystinuria
Hematuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis ORPHA:214
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Nephrotic syndro... ORPHA:29073
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Renal... OMIM:118450
Generalized Pustular Psoriasis
Hypoalbuminemia, Renal insufficiency, Hypocalcemia, Hyponatremia, Elevated circulating C-reactive... ORPHA:247353
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Hyperuricemic Nephropathy, Familial Juvenile, 3
Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating abilit... OMIM:614227
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Gitelman Syndrome
Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Hypomagnesemia, Hypocalcemia, Rena... ORPHA:358
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyceridemia, Rena... OMIM:618183
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul... ORPHA:340
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Abnormal renal physiology, Increased circulating ferritin concentration, Hypertr... ORPHA:540
Al Amyloidosis
Hypoalbuminemia, Renal insufficiency, Proteinuria, Increased circulating NT-proBNP concentration,... ORPHA:85443
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, 4-Hydroxyphenylpyruvic aciduria, Hyperty... OMIM:617156
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Urinary incontinence, Hypotriglyceridemia, Decreased HDL cholesterol ... OMIM:618885
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Elevated urinary dopamine level, Increased blood u... ORPHA:230
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Melas
Nephropathy, Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy ORPHA:550
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst OMIM:617478
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... OMIM:242150
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Nephrotic syndrome, Hypomagnesemia, Hypocalcemia, Decreased circulating prealbum... ORPHA:37042
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci... ORPHA:88618
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr... ORPHA:90038
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Proximal tubulopathy, Hypocholesterolemia, Proteinuria, Renal cyst, Nephrotic sy... OMIM:212065
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Xfe Progeroid Syndrome
Hypoalbuminemia, Proteinuria, Renal insufficiency OMIM:610965
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Galactosuria, Abno... OMIM:222470
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Hyperbilirubinemia, Elevated circulating alpha-fetopr... OMIM:251880
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Beta 2-microglobulinuria, Sterile pyuria, Elevated circulating creatinine concentr... ORPHA:91500
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Ectopic kidney OMIM:235510
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia, 3-Methylglutaconic aciduria OMIM:618329
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Elevated hemoglobin A1c, Proteinuria, Hypertriglyceridemia OMIM:619127
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Leishmaniasis
Hypoalbuminemia ORPHA:507
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Aminoaciduria, Elevated circulating creatine kinase concentration OMIM:619055
Wilson Disease
Hypouricemia, Hypoalbuminemia, Aminoaciduria, Glycosuria, Hyperbilirubinemia, Hyperphosphaturia, ... OMIM:277900
Macrophage Activation Syndrome
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... ORPHA:158061
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Heavy p... ORPHA:505248
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Ogden Syndrome
Hyperbilirubinemia, Global glomerulosclerosis, Polycystic kidney dysplasia, Patent ductus arterio... OMIM:300855
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Nephritis, Hypotriglyceridemia, Glycosuria, Abnormal circulating lipid concentra... ORPHA:2298
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Alg12-Cdg
Hypoalbuminemia, Hypocholesterolemia, Hyponatremia, Micropenis, Hypospadias, Patent ductus arteri... ORPHA:79324
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Yellow Fever
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperbilirubinemia, R... ORPHA:99829
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hypocholesterolemia... OMIM:270400
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Dilatation of the renal pelvis, Increased circulating ferritin concentration, Hy... OMIM:619534
Primary Sclerosing Cholangitis
Hypoalbuminemia, Renal insufficiency ORPHA:171
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hyperch... ORPHA:186
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypocholesterolemia, Reduced circulating transferrin concentration, Decreased ci... ORPHA:90363
Kawasaki Disease
Elevated circulating C-reactive protein concentration, Proteinuria, Sterile pyuria, Hypoalbuminemia ORPHA:2331
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Recurrent urinary tract infections OMIM:613658
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Patent ductus arteriosus ORPHA:79076
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia OMIM:619381
Pmm2-Cdg
Hypoalbuminemia, Reduced thyroxin-binding globulin, Proteinuria, Abnormal renal tubule morphology... ORPHA:79318
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565

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 Itga1

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 Itga1.

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

Title Journal IMPC Allele PubMed ID
Multiscale anisotropy analysis of second-harmonic generation collagen imaging of mouse skin. Journal of biomedical optics (June 2021) Itga10tm1a(EUCOMM)Hmgu PMC8217961

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MGI Allele Allele Type Produced
Itga1em1(IMPC)Ccpcz Exon Deletion Mice
Itga1tm371772(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Itga1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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