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Gene: Nfkbil1 MGI:1340031

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Gene Summary

Name:
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor like 1
Synonyms:
Def-7

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Nfkbil1tm1a(KOMP)Wtsi HOM   Early adult 3.37×10-06
decreased circulating serum albumin level Nfkbil1tm1a(KOMP)Wtsi HOM Early adult 2.57×10-05

Download data as:  TSV  XLS

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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.

DSS Histology

Images

8 Images

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Anti-nuclear antibody assay

Images

6 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Nfkbil1tm1a(KOMP)Wtsi
HOM, Male, WTSI
Nfkbil1tm1a(KOMP)Wtsi
HOM, Male, WTSI
Nfkbil1tm1a(KOMP)Wtsi
HOM, Female, WTSI
Nfkbil1tm1a(KOMP)Wtsi
HOM, Female, WTSI
Nfkbil1tm1a(KOMP)Wtsi
HOM, Female, WTSI

View all 70 images

Human diseases caused by Nfkbil1 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 Nfkbil1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Rheumatoid Arthritis
Elevated circulating C-reactive protein concentration OMIM:180300

The table below shows human diseases predicted to be associated to Nfkbil1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Diarrhea 13
Hypoalbuminemia OMIM:620357
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia OMIM:613752
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Chylomicron Retention Disease
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:246700
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... OMIM:616050
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... OMIM:242150
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Leishmaniasis
Hypoalbuminemia ORPHA:507
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia OMIM:251880
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... ORPHA:89842
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia OMIM:619487
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia OMIM:212065
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia... ORPHA:14
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop... OMIM:277900
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis OMIM:222470
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... ORPHA:90363
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Hypotrig... ORPHA:2298
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia ORPHA:505248
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... ORPHA:99826
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia OMIM:270400
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:619381
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Pmm2-Cdg
Reduced thyroxin-binding globulin, Hypoalbuminemia ORPHA:79318
Rheumatoid Arthritis
Elevated circulating C-reactive protein concentration OMIM:180300

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 Nfkbil1

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 Nfkbil1.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Nfkbil1tm1a(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Nfkbil1tm1a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Nfkbil1tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Nfkbil1tm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Nfkbil1tm1a(KOMP)Wtsi PMC5827107
A Genome-Wide Association Study for Regulators of Micronucleus Formation in Mice. G3 (Bethesda, Md.) (August 2016) Nfkbil1tm1a(KOMP)Wtsi PMC4978889

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MGI Allele Allele Type Produced
Nfkbil1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Nfkbil1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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