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Gene: Rnft1 MGI:1924142

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Gene Summary

Name:
ring finger protein, transmembrane 1
Synonyms:
0610013E23Rik

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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
abnormal mammary gland morphology Rnft1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal kidney morphology Rnft1em1(IMPC)Ccpcz HOM Early adult 0.00
increased kidney weight Rnft1em1(IMPC)Ccpcz HOM Early adult 4.26×10-05

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Viewing: all phenotypes

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.

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

30 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

15 Images

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Human diseases caused by Rnft1 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 Rnft1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Polycystic ovarie... ORPHA:90301
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... ORPHA:730
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ... OMIM:263200
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Synophrys, Low anterior hairline, Hirsutism, Low posteri... OMIM:617303
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Pancreatic cysts, Splenomegaly, Stage 5 c... OMIM:208540
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Nephroblastoma, Stage 5 chronic kidney disease, Nephrotic syndrome, ... OMIM:194080
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic... OMIM:608836
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Splenomegaly, Nephrolithiasis, Focal segmental gl... OMIM:232220
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... OMIM:232200
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney OMIM:200995
H Syndrome
Abnormal eyebrow morphology, Alopecia, Abnormality of the kidney, Hepatosplenomegaly, Micropenis,... ORPHA:168569
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephrolithiasis, Renal cortic... OMIM:130650
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney ORPHA:464329
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin... ORPHA:449395
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Enlarged kidney, Hyperparathyroidism, Unilateral renal agenesis OMIM:618188
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Thick hair, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndro... ORPHA:505248
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... OMIM:276700
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Low posterior hairline, Hypoplasia ... ORPHA:79328
Endocrine-Cerebroosteodysplasia
Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney OMIM:612651
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Biliary hyperplasia, Pancreatic cysts, S... ORPHA:731
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Brittle hair, Cardiomegaly, Sparse eyebrow, Splenomegaly, Mucopolysacchariduria, Sp... OMIM:252500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Polycystic ovaries, N... ORPHA:79259
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Cardiomegaly, Cryptorchidism, Splenomegaly, Abnormal pancreas... ORPHA:116
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Facial hypertrichos... ORPHA:508
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney ORPHA:500095
Ogden Syndrome
Global glomerulosclerosis, Cardiomegaly, Sparse eyebrow, Cryptorchidism, Fine hair, Hydrocele tes... OMIM:300855
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto... OMIM:615873
Meacham Syndrome
Enlarged kidney, Horseshoe kidney OMIM:608978
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly OMIM:261740
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Enlarged kidney OMIM:306955
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Short nail, Supernumerary nipple, Cryptorchidism, Splenomegaly, Renal ... OMIM:312870
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidism, Patent urachus, Micropenis, E... OMIM:618280

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 Rnft1

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 Rnft1.

No publications found that use IMPC mice or data for Rnft1.

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MGI Allele Allele Type Produced
Rnft1tm51(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Rnft1tm51(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Rnft1em1(IMPC)Ccpcz Exon Deletion Mice

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