Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
folliculin
Synonyms:
BHD,  B430214A04Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Cortical tubers, Polycystic kidney dysplasia OMIM:600273
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Birt-Hogg-Dube Syndrome
Multiple lipomas, Renal cyst, Renal neoplasm, Colon cancer, Cutaneous leiomyoma, Fibrofolliculoma... OMIM:135150
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Nephrolithiasis, Renal cortical adenoma, Parathyroid adenoma, Polycystic k... OMIM:145001
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Abnormality of the kidney, Renal dysplasia, Renal insufficiency OMIM:615993
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Renal cyst, Colon cancer, Papilloma, Neoplasm of the rectum, Uterine leiomy... ORPHA:480536
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical microcysts OMIM:613824
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Thyroid adenoma, Fibroma, Papilloma, Adenocarcinoma of the colon, Uterine l... ORPHA:220460
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Enuresis, Tubulointerstitial nephritis, Renal tubular atrop... OMIM:603860
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency ORPHA:1909
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Multiple renal cysts ORPHA:3033
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Renal Cell Carcinoma, Nonpapillary
Renal cell carcinoma OMIM:144700
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Abnormality of the kidney OMIM:613730
Tuberous Sclerosis 2
Renal angiomyolipoma, Renal cyst, Cortical tubers, Adenoma sebaceum, Cardiac rhabdomyoma, Pulmona... OMIM:613254
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Renal insufficiency, Polycystic kidney dysplasia OMIM:615382
Peutz-Jeghers Syndrome
Esophageal neoplasm, Abnormality of the ureter, Gastrointestinal carcinoma, Breast carcinoma, Bil... ORPHA:2869
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Nut Midline Carcinoma
Ewing sarcoma, Squamous cell carcinoma, Leukemia, Neuroblastoma, Neoplasm, Oropharyngeal squamous... ORPHA:443167
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Pancreatic cysts, Decrea... ORPHA:730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Focal segmental glomerulosclerosis, Nephropathy OMIM:617056
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cyst, Cortical tubers, Adenoma sebaceum, Cardiac rhabdomyoma, Pulmona... OMIM:191100
Von Hippel-Lindau Syndrome
Epididymal cyst, Spinal hemangioblastoma, Paraganglioma, Pulmonary capillary hemangiomatosis, Pap... OMIM:193300
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst OMIM:228940
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias OMIM:231060
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Pancreatic cysts, Polycystic kidney dysplasia, Tubulointerstitial fi... OMIM:263200
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Nephropathy, Hematuria, Renal insufficiency OMIM:611773
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias OMIM:614175
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Joubert Syndrome 20
Renal cyst OMIM:614970
Nephronophthisis 3
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Stage 5 chr... OMIM:613095
Nephronophthisis 4
Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Renal hypoplasia, ... OMIM:120330
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Renal hypoplasia, Renal insufficiency OMIM:610205
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Multiple Endocrine Neoplasia, Type Iv
Renal angiomyolipoma, Carcinoma, Parathyroid adenoma, Pancreatic endocrine tumor, Pituitary adeno... OMIM:610755
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Renal cyst, Stage 5 chronic kidney disease, Renal dysplasia, Nephropathy, Nephronophthisis OMIM:266920
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts ORPHA:66637
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Axial Osteomalacia
Renal cyst OMIM:109130
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal dysplasia, Renal cyst, Ureteral agenesis OMIM:236500
Simpson-Golabi-Behmel Syndrome, Type 2
Multicystic kidney dysplasia, Micropenis, Facial capillary hemangioma OMIM:300209
Hyperparathyroidism-Jaw Tumor Syndrome
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalciuria, Fibroma, Testicul... ORPHA:99880
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Multiple renal cysts, Vesicoureteral reflux, Renal hypoplasia/aplasia ORPHA:1166
Parathyroid Carcinoma
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Parathyroid carcinoma, Hypercalci... ORPHA:143
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Renal ce... ORPHA:805
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Hydronephrosis, Renal dysplasia, Renal cyst OMIM:615287
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Joubert Syndrome 35
Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections, Renal fibrosis OMIM:618161
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insufficiency OMIM:614922
Prune Belly Syndrome
Abnormality of the ureter, Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary t... ORPHA:2970
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... OMIM:602088
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts OMIM:263630
Bor Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia, Ureteropelvic junction ob... ORPHA:107
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia, Displacement of the ureth... ORPHA:2973
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Renal cyst, Nephrotic syndrome, Tubulointerstitial nephritis, Heavy prote... ORPHA:255249
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Epididymal cyst, Renal cyst, Multiple glomerular cysts, De... OMIM:137920
Senior-Loken Syndrome 3
Stage 5 chronic kidney disease, Enuresis, Polyuria, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Axial Mesodermal Dysplasia Spectrum
Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney, Abnormali... ORPHA:1834
Bardet-Biedl Syndrome 17
Micropenis, Stage 5 chronic kidney disease, Polyuria, Renal cyst OMIM:615994
Coach Syndrome 1
Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple small medullary r... OMIM:216360
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Pancreatic cysts, Tubular basement membrane disintegration, Renal tubular atrop... OMIM:613159
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst, Meningocele ORPHA:2031
Femoral-Facial Syndrome
Abnormal localization of kidney, Long penis, Renal hypoplasia/aplasia, Polycystic kidney dysplasia ORPHA:1988
Epidermal Nevus Syndrome
Lipoma, Spinal cord tumor, Rhabdomyosarcoma, Polycystic kidney dysplasia ORPHA:35125
Meckel Syndrome, Type 2
Renal cyst, Meningocele OMIM:603194
Campomelia, Cumming Type
Multicystic kidney dysplasia, Myelodysplasia, Pancreatic cysts, Multiple renal cysts ORPHA:1318
Trisomy 13
Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Capillary hemangi... ORPHA:3378
Branchiootorenal Syndrome 1
Renal agenesis, Renal malrotation, Cholesteatoma, Polycystic kidney dysplasia, Renal dysplasia, R... OMIM:113650
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypercalciuria, Ureteral stenosis, Nephrocalcinosis, Renal cyst OMIM:615398
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Polycystic kid... OMIM:231680
Joubert Syndrome 14
Renal cyst OMIM:614424
Nephronophthisis 11
Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Renal tubular atrophy, Rena... OMIM:613550
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia OMIM:615415
Von Hippel-Lindau Disease
Epididymal cyst, Paraganglioma, Papillary cystadenoma of the epididymis, Elevated urinary catecho... ORPHA:892
Vacterl/Vater Association
Renal agenesis, Ectopic kidney, Hydronephrosis, Hypoplasia of penis, Cavernous hemangioma, Multic... ORPHA:887
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Parathormone-independent increased renal tubular calcium reabsorption, Multiple... OMIM:600740
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Renal cyst, Hypospadias, Polycystic kidney dysplasia OMIM:614091
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Papillary cystadenoma of the epididymis, Horseshoe kidney, Renal Fanconi syndrome... ORPHA:93111
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Neoplasm of the heart, Megacystis ORPHA:2241
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Renal insufficiency ORPHA:445038
Multiple Endocrine Neoplasia Type 4
Renal angiomyolipoma, Pituitary corticotropic cell adenoma, Parathyroid carcinoma, Subcutaneous l... ORPHA:276152
Distal Renal Tubular Acidosis
Renal cyst, Nephrocalcinosis, Hypermagnesiuria, Nephrolithiasis, Hypocitraturia, Hypercalciuria, ... ORPHA:18
Mody
Glycosuria, Renal cyst, Abnormality of the kidney, Nephropathy, Hepatocellular adenoma ORPHA:552
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Meckel Syndrome, Type 6
Aplasia of the bladder, Renal cyst, Horseshoe kidney, Hepatic cysts OMIM:612284
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Distal Tetrasomy 15Q
Horseshoe kidney, Hydronephrosis, Dilatation of the renal pelvis, Abnormality of the kidney, Poly... ORPHA:314588
Diaphanospondylodysostosis
Nephroblastomatosis, Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest OMIM:608022
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Ureteral atresia, Pancreatic cysts, Polycystic kidney dysplasia, Renal dysplasia... OMIM:208540
Meckel Syndrome, Type 4
Renal cyst, Meningocele OMIM:611134
Severe Generalized Junctional Epidermolysis Bullosa
Renal cyst, Urinary retention, Squamous cell carcinoma, Dysuria, Hydronephrosis, Ureterocele, Mul... ORPHA:79404
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Hemangioma, Renal agenesis ORPHA:1297
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal cyst, Hydronephrosis, Renal hypoplasia, Microphallus, Vesicoureteral reflux OMIM:618454
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Renal cortical microcysts OMIM:614866
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Renal cyst, Ureteral atresia, Hydronephrosis, Renal hypoplasia, Ovaria... OMIM:614527
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Tubulointerstitial nephritis, Red-brown urine, Myoglobinuria, Polycystic ... ORPHA:157
Colorectal Cancer
Uterine leiomyosarcoma, Hereditary nonpolyposis colorectal carcinoma, Renal cell carcinoma, Trans... OMIM:114500
Thauvin-Robinet-Faivre Syndrome
Renal cyst, Bifid ureter, Renal malrotation, Renal dysplasia, Nephroblastoma OMIM:617107
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Kleefstra Syndrome
Renal cyst, Micropenis, Hydronephrosis, Hypoplasia of penis, Renal insufficiency, Vesicoureteral ... ORPHA:261494
Pallister-Hall Syndrome
Hypothalamic hamartoma, Ectopic kidney, Renal cyst, Micropenis, Hydronephrosis, Renal hypoplasia,... OMIM:146510
Lymphangioleiomyomatosis
Renal angiomyolipoma, Renal neoplasm, Abnormal urinary color, Hematuria, Pulmonary lymphangiomyom... ORPHA:538
Bardet-Biedl Syndrome
Multicystic kidney dysplasia, Nephrotic syndrome, Hypoplasia of penis ORPHA:110
Mosaic Variegated Aneuploidy Syndrome 1
Renal cyst, Leukemia, Rhabdomyosarcoma, Micropenis, Nephroblastoma, Hypospadias OMIM:257300
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Renal cyst, Horseshoe kidney ORPHA:166035
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Arima Syndrome
Occipital meningocele, Nephronophthisis, Polycystic kidney dysplasia, Tubulointerstitial fibrosis... OMIM:243910
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Dark urine ORPHA:79303
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Hamartoma of tongue, Polycystic kidney dysplasia, Renal dysplasia OMIM:613091
Cystic Echinococcosis
Membranous nephropathy, Renal cyst, Hepatic cysts, Ovarian cyst ORPHA:400
Trisomy 1Q
Multicystic kidney dysplasia, Hydronephrosis, Congenital megaureter ORPHA:261344
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hydronephrosis, Polycystic kidney dysplasia, Renal dysplas... OMIM:608836
Trisomy 17P
Hydronephrosis, Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve, Urethral stenosis ORPHA:261290
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Multiple glomerular cysts, Pancreat... OMIM:267010
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Renal cyst, Nephrotic syndrome, Proteinuria OMIM:212065
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Tubulointerstitial nephritis, Red-brown urine, Myoglobinuria, Polycystic ... ORPHA:228308
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Mosaic Trisomy 1
Micropenis, Penile hypospadias, Renal cortical cysts, Renal cyst ORPHA:1692
Trisomy 20P
Abnormality of the ureter, Hydronephrosis, Abnormality of the kidney, Abnormal localization of ki... ORPHA:261318
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Kaposiform Lymphangiomatosis
Enlarged kidney, Lymphangioma, Pancreatic cysts, Papilloma, Multiple renal cysts ORPHA:464329
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst ORPHA:488618
Mosaic Variegated Aneuploidy Syndrome
Rhabdomyosarcoma, Colon cancer, Neoplasm, Multicystic kidney dysplasia, Nephroblastoma, Myelodysp... ORPHA:1052
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Renal agenesis, Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia OMIM:220500
Joubert Syndrome 2
Nephronophthisis, Abnormal renal physiology, Renal cyst OMIM:608091
Marden-Walker Syndrome
Renal agenesis, Hydroureter, Renal hypoplasia/aplasia, Abnormal penis morphology, Hydronephrosis,... ORPHA:2461
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Lacticaciduria, Polycystic kidney dysplasia, Ethylmalonic aciduria, Gl... ORPHA:26791
Zellweger Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Hypospadias ORPHA:912
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Renal dysplasia, Multicystic kidney dysplasia OMIM:308205
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1001
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Renal dysplasia, Renal in... ORPHA:2237
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst OMIM:617260
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Penile Agenesis
Fetal pyelectasis, Urethral atresia, male, Cystic renal dysplasia, Urethral fistula, Unilateral r... ORPHA:49
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Renal cyst, Nephrocalcinosis, Hypercalciuria, Renal dysplasia, Abnormality of the urinary system,... ORPHA:369837
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal cyst, Pancreatic cysts, Proteinuria, Chronic kidney disease, Nephritis, Renal insufficiency OMIM:208500
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia ORPHA:3015
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Renal cyst, Pancreatic cysts, Polycystic kidney dysplasia OMIM:610199
Schinzel-Giedion Syndrome
Renal cyst, Abnormality of the ureter, Hepatoblastoma, Nephrolithiasis, Teratoma, Micropenis, Hyd... ORPHA:798
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney OMIM:250410
Cornelia De Lange Syndrome 1
Ectopic kidney, Renal cyst, Reduced renal corticomedullary differentiation, Proteinuria, Renal hy... OMIM:122470
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
Beckwith-Wiedemann Syndrome
Enlarged kidney, Multiple renal cysts, Hepatoblastoma, Nephrolithiasis, Ureteral duplication, Adr... ORPHA:116
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Polycystic kidney dysplasia OMIM:214110
Perlman Syndrome
Nephroblastomatosis, Nephrogenic rest, Renal hamartoma, Nephroblastoma OMIM:267000
Joubert Syndrome With Hepatic Defect
Multicystic kidney dysplasia, Neoplasm of the liver, Nephropathy, Renal insufficiency ORPHA:1454
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts OMIM:617668
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Hypoplasia of penis, Renal dysplasia, Multiple renal cysts ORPHA:99776
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Renal cyst, Micropenis, Hydronephrosis, Pelvic kidney, Hypospadias ORPHA:464311
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Mckusick-Kaufman Syndrome
Glandular hypospadias, Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ur... ORPHA:2473
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Cystic renal dysplasia, Horseshoe kidney, Pelvic kidney OMIM:156810
Joubert Syndrome 1
Renal cyst, Occipital myelomeningocele, Nephropathy OMIM:213300
Focal Dermal Hypoplasia
Giant cell tumor of bone, Horseshoe kidney, Hydronephrosis, Papilloma, Multicystic kidney dysplas... ORPHA:2092
Autosomal Recessive Polycystic Kidney Disease
Oliguria, Enlarged kidney, Hepatoblastoma, Reduced renal corticomedullary differentiation, Pancre... ORPHA:731
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Vesicoureteral reflux, Polycystic kidney dysplasia OMIM:606232
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Renal cyst, Micropenis, Hydronephrosis, Pelvic kidney, Hypospadias ORPHA:464306
Joubert Syndrome 21
Renal cyst, Hyperechogenic kidneys OMIM:615636
Beckwith-Wiedemann Syndrome
Enlarged kidney, Renal cortical cysts, Nephrocalcinosis, Nephrolithiasis, Hepatoblastoma, Adrenoc... OMIM:130650
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst OMIM:616300
Alveolar Echinococcosis
Renal cyst, Hepatic cysts, Abnormality of bladder morphology, Pancreatic cysts ORPHA:284
Short Rib-Polydactyly Syndrome
Multiple glomerular cysts, Abnormality of the kidney, Hepatic cysts, Polycystic kidney dysplasia,... ORPHA:1505
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Myelomeningocele, Pancreatic cysts, Proteinuria, Ovarian cyst, Polycystic... OMIM:311200
Fryns Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Hypospadias, Vesicoureteral reflux ORPHA:2059
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:261349
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Renal agenesis, Renal cyst, Micropenis, Hydronephrosis, Renal hypoplas... OMIM:270400
15q26 overgrowth syndrome
Renal agenesis, Horseshoe kidney, Hydronephrosis, Abnormality of the kidney, Duplication of renal... DECIPHER:81
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Renal insufficiency OMIM:617478
Simpson-Golabi-Behmel Syndrome
Hepatoblastoma, Neuroblastoma, Ureteral duplication, Hydronephrosis, Hypoplasia of penis, Neoplas... ORPHA:373
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Mckusick-Kaufman Syndrome
Hydroureter, Hydronephrosis, Vesicovaginal fistula, Polycystic kidney dysplasia OMIM:236700
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Alagille Syndrome 1
Renal tubular acidosis, Papillary thyroid carcinoma, Multiple small medullary renal cysts, Renal ... OMIM:118450
Proteus Syndrome
Renal cyst, Visceral angiomatosis, Lymphangioma, Testicular neoplasm, Long penis, Neoplasm, Menin... ORPHA:744
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Cystic renal dysplasia, Hamartoma of tongue OMIM:269860
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia OMIM:200995
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Caroli Disease
Cholangiocarcinoma, Polycystic kidney dysplasia ORPHA:53035
Orofaciodigital Syndrome Type 1
Pancreatic cysts, Proteinuria, Hydronephrosis, Hamartoma of tongue, Multicystic kidney dysplasia,... ORPHA:2750
Floating-Harbor Syndrome
Epididymal cyst, Renal agenesis, Renal cyst, Nephrocalcinosis, Hydronephrosis, Dilatation of the ... ORPHA:2044
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Mpdu1-Cdg
Renal cortical cysts ORPHA:79323
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Hamartoma of tongue, Polycystic kidney dysplasia OMIM:263520
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Nephrocalcinosis, Nephrolithiasis, Hematuria, Proteinuria, Hype... ORPHA:534
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Capillary hemangioma, Displacement of the urethral meatus ORPHA:1556
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Bifid ureter, Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma ORPHA:500095
D-Bifunctional Protein Deficiency
Renal cyst OMIM:261515
Microgastria-Limb Reduction Defect Syndrome
Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Multicystic kidney dysplasia, Rena... ORPHA:2538
Syndromic Diarrhea
Renal hypoplasia, Hepatoblastoma, Polycystic kidney dysplasia ORPHA:84064
Distal Monosomy 12Q
Ectopic kidney, Micropenis, Hydronephrosis, Polycystic kidney dysplasia, Pituitary adenoma, Vesic... ORPHA:96149
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Renal cyst, Hypospadias, Vesicoureteral reflux OMIM:616975
Cerebrocostomandibular Syndrome
Ectopic kidney, Horseshoe kidney, Renal cyst OMIM:117650
Hajdu-Cheney Syndrome
Renal cyst, Hypospadias OMIM:102500
Joubert Syndrome 5
Nephronophthisis, Renal cortical cysts, Stage 5 chronic kidney disease, Impaired renal concentrat... OMIM:610188
Fryns Syndrome
Renal agenesis, Renal cyst, Ureteral duplication, Hydronephrosis, Hypospadias OMIM:229850
Acrorenal-Mandibular Syndrome
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia OMIM:200980
Smith-Lemli-Opitz Syndrome
Hydronephrosis, Hypoplasia of penis, Facial capillary hemangioma, Multicystic kidney dysplasia, A... ORPHA:818
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Myelomeningocele, Meningocele ORPHA:1393
Caroli Syndrome
Cholangiocarcinoma, Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
1P36 Deletion Syndrome
Renal cyst, Neuroblastoma, Hydronephrosis, Abnormality of the kidney, Hypoplasia of penis, Hyposp... ORPHA:1606
Pearson Syndrome
Glycosuria, Renal cyst, Lacticaciduria, Proteinuria, Renal insufficiency ORPHA:699
Cranioectodermal Dysplasia 2
Renal cyst, Renal insufficiency OMIM:613610
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal cortical cysts, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Meningocele, ... ORPHA:397715
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries ORPHA:137675
Hyper-Igd Syndrome
Renal angiomyolipoma, Elevated urine mevalonic acid OMIM:260920
C Syndrome
Renal cortical cysts OMIM:211750
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micropenis, Renal hypoplasia, Renal cyst OMIM:210710
22Q11.2 Deletion Syndrome
Occipital myelomeningocele, Renal hypoplasia, Hypospadias, Polycystic kidney dysplasia, Meningoce... ORPHA:567
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Roberts Syndrome
Midface capillary hemangioma, Long penis, Polycystic kidney dysplasia ORPHA:3103
Meckel Syndrome, Type 1
Renal agenesis, Abnormality of the ureter, Hypoplasia of the bladder, Polycystic kidney dysplasia OMIM:249000
Pagod Syndrome
Multicystic kidney dysplasia, Meningocele, Renal hypoplasia/aplasia ORPHA:991
Trisomy 10P
Abnormality of the kidney, Multiple renal cysts ORPHA:171929
Tetrasomy 9P
Horseshoe kidney, Micropenis, Hydronephrosis, Pilomatrixoma, Renal dysplasia, Recurrent urinary t... ORPHA:3310
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Hypoplasia of penis ORPHA:1507
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Renal cyst, Hepatoblastoma, Hydronephrosis, Embryonal neoplasm, Duplication of r... OMIM:312870
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Meckel Syndrome
Multicystic kidney dysplasia, Pancreatic cysts, Ureteral duplication, Urethral atresia ORPHA:564
Jacobsen Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:2308
Hajdu-Cheney Syndrome
Hypospadias, Multiple renal cysts ORPHA:955
Robinow Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Webbed penis, Micropenis ORPHA:97360
C Syndrome
Multicystic kidney dysplasia, Horseshoe kidney, Midline facial capillary hemangioma, Renal hypopl... ORPHA:1308
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Renal cyst, Hypospadias ORPHA:495875
Williams Syndrome
Nephrocalcinosis, Bladder diverticulum, Nephrolithiasis, Renal duplication, Proteinuria, Hypercal... ORPHA:904
Townes-Brocks Syndrome
Ectopic kidney, Renal hypoplasia, Abnormality of the kidney, Hypoplasia of penis, Renal insuffici... ORPHA:857
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Distal Monosomy 15Q
Multicystic kidney dysplasia, Hypospadias, Micropenis, Abnormal localization of kidney ORPHA:1596
Femoral-Facial Syndrome
Renal agenesis, Abnormal renal collecting system morphology, Micropenis, Polycystic kidney dysplasia OMIM:134780
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal cyst, Hydronephrosis, Renal hypoplasia, Hypoplasia of penis, Urethrovaginal fistula ORPHA:93271
Fraser Syndrome
Myelomeningocele, Renal hypoplasia, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadia... ORPHA:2052
Townes-Brocks Syndrome 1
Renal hypoplasia, Hypospadias, Multicystic kidney dysplasia, Renal dysplasia, Renal insufficiency... OMIM:107480
Branchiooculofacial Syndrome
Renal agenesis, Renal cyst, Hypospadias, Hamartoma OMIM:113620
Peters Plus Syndrome
Ureteral duplication, Renal duplication, Hydronephrosis, Multicystic kidney dysplasia, Renal hypo... ORPHA:709
Cornelia De Lange Syndrome
Hypospadias, Hypoplasia of penis, Multicystic kidney dysplasia, Renal insufficiency, Vesicoureter... ORPHA:199
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Micropenis OMIM:606170
Roberts-Sc Phocomelia Syndrome
Horseshoe kidney, Midface capillary hemangioma, Long penis, Polycystic kidney dysplasia, Hypospadias OMIM:268300
Ulbright-Hodes Syndrome
Polycystic kidney dysplasia, Renal hypoplasia, Abnormal penis morphology ORPHA:3404
Mowat-Wilson Syndrome
Chordee, Renal duplication, Micropenis, Hydronephrosis, Abnormality of the kidney, Hypospadias, M... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Chordee, Renal duplication, Micropenis, Hydronephrosis, Hypospadias, Multicystic kidney dysplasia... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Chordee, Renal duplication, Micropenis, Hydronephrosis, Hypospadias, Duplication of renal pelvis,... ORPHA:261552
Pallister-Killian Syndrome
Renal dysplasia, Hypospadias, Renal cyst OMIM:601803
Craniofacial Microsomia
Renal agenesis, Ectopic kidney, Multicystic kidney dysplasia, Ureteropelvic junction obstruction,... OMIM:164210
Pmm2-Cdg
Abnormal renal tubule morphology, Multiple renal cysts, Nephrotic syndrome, Proteinuria ORPHA:79318
Birt-Hogg-Dubé Syndrome
Multiple lipomas, Renal cell carcinoma, Medullary thyroid carcinoma, Parathyroid adenoma ORPHA:122
Familial Spontaneous Pneumothorax
ORPHA:2903
Pneumothorax, Primary Spontaneous
OMIM:173600

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 Flcn

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 Flcn.

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

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MGI Allele Allele Type Produced
Flcntm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Flcntm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Flcntm43661(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Flcntm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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