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Gene: Rasal1 MGI:1330842

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Gene Summary

Name:
RAS protein activator like 1 (GAP1 like)
Synonyms:
MRASAL

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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.

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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.

X-ray

XRay Images Skull Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Forepaw

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

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Human diseases caused by Rasal1 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 Rasal1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Nephronophthisis 4
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... OMIM:606966
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers... OMIM:256100
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Impaired renal concentrating ability, St... OMIM:266900
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts OMIM:609886
Alport Syndrome
Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi... ORPHA:63
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria OMIM:618913
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cyst, Hyperechog... OMIM:263200
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Decreased glomerular filtration rate, Tubulointerstitial fib... ORPHA:85450
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis OMIM:232500
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Tubulointer... OMIM:602522
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... OMIM:243910
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Hyperuricemic Nephropathy, Familial Juvenile, 3
Abnormal renal insterstitial morphology, Impaired renal concentrating ability, Renal insufficiency OMIM:614227
Spondyloenchondrodysplasia With Immune Dysregulation
Tubulointerstitial fibrosis OMIM:607944
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Tubulointerstitial fibrosis, Nephrolithiasis, Nephrocalcinosis, Proteinuria, Sta... ORPHA:79259
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Gapo Syndrome
Tubulointerstitial fibrosis OMIM:230740
Lysinuric Protein Intolerance
Abnormal renal tubule morphology, Argininuria, Oroticaciduria, Decreased glomerular filtration ra... ORPHA:470
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Renal Fanconi syndrome, Abnormal... ORPHA:411629
Williams Syndrome
Hypoplasia of penis, Hypercalciuria, Recurrent urinary tract infections, Pelvic kidney, Abnormali... ORPHA:904

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 Rasal1

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 Rasal1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A semaphorin-plexin-Rasal1 signaling pathway inhibits gastrin expression and protects against peptic ulcers. Science translational medicine (July 2022) Rasal1tm1a(KOMP)Wtsi Rasal1tm1b(KOMP)Wtsi 35857828
High-fidelity CRISPR/Cas9- based gene-specific hydroxymethylation rescues gene expression and attenuates renal fibrosis. Nature communications (August 2018) Rasal1tm1a(KOMP)WTSI PMC6115451

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Rasal1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rasal1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Rasal1em1(IMPC)J Exon Deletion Mice

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