Gene Summary

Name:
ribonuclease, RNase A family, 1 (pancreatic)
Synonyms:
Rib-1,  Rib1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Rnase1em5(IMPC)Tcp HOM Early adult 0.00
decreased prepulse inhibition Rnase1em5(IMPC)Tcp HOM   Early adult 2.62×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Histopathology

Images

3 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Rnase1 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 Rnase1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Athrombia, Essential
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation OMIM:209050
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Glanzmann Thrombasthenia 2
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Dec... OMIM:619267
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Halothane Hepatitis
Viral hepatitis, Obesity, Hepatitis, Jaundice OMIM:234350
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal enzyme/coenzyme activity, Obesity ORPHA:171706
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Hyperostosis Frontalis Interna
Obesity, Elevated circulating alkaline phosphatase concentration OMIM:144800
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Increased body weight, Jaundice ORPHA:890
Summitt Syndrome
Obesity OMIM:272350
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Nephronophthisis 15
Hepatic failure, Obesity OMIM:614845
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Prolonged bleeding time, Impa... OMIM:273800
Central Precocious Puberty
Obesity, Increased body weight, Overgrowth ORPHA:759
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
Bardet-Biedl Syndrome 21
Obesity, Elevated hepatic transaminase, Overweight OMIM:617406
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity OMIM:617119
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time OMIM:608404
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time OMIM:614158
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time OMIM:614201
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Abcd Syndrome
Large for gestational age OMIM:600501
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Wilson Disease
Jaundice, Acute hepatic failure, Failure to thrive, Hepatitis, Elevated hepatic transaminase, Inc... ORPHA:905
Platelet Disorder, Undefined
Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Blue Diaper Syndrome
Elevated hepatic transaminase, Increased body weight ORPHA:94086
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Factor V Deficiency
Prolonged prothrombin time, Prolonged bleeding time OMIM:227400
Sebastian syndrome
Prolonged bleeding time OMIM:605249
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Elevated hepatic transaminase, Elevated circulating alkaline phosphata... ORPHA:263455
Low Phospholipid-Associated Cholelithiasis
Elevated gamma-glutamyltransferase level, Obesity, Overweight, Intrahepatic cholestasis, Elevated... ORPHA:69663
Myh9-Related Disease
Prolonged bleeding time, Elevated hepatic transaminase ORPHA:182050
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Abdominal obesity OMIM:615954
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Impaired thrombin-induce... OMIM:139090
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Elevated circulating alkaline phosphatase concentration, Elevated hepa... OMIM:616026
Narcolepsy 7
Obesity OMIM:614250
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Prolonged bleeding time OMIM:613679
Von Willebrand Disease, Type 3
Prolonged bleeding time, Impaired platelet aggregation OMIM:277480
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Hellp Syndrome
Increased circulating lactate dehydrogenase concentration, Prolonged prothrombin time, Elevated h... ORPHA:244242
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Sotos Syndrome
Prolonged neonatal jaundice, Tall stature, Increased body weight, Overgrowth OMIM:117550
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Abnormal enzyme/coenzyme activity, Failure to thrive, Elevated hepatic transaminase, Abnormal ery... ORPHA:264580
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Prolonged bleeding time, Impaired platelet aggregation OMIM:601399
Storage Pool Platelet Disease
Prolonged bleeding time OMIM:185050
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Abnormal enzyme/coenzyme activity, Elevated hepatic transaminase, Increased body weight ORPHA:79240
Insulinoma
Increased body weight ORPHA:97279
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Primary Pigmented Nodular Adrenocortical Disease
Elevated hepatic transaminase, Increased body weight, Abdominal obesity ORPHA:189439
Adrenocortical Carcinoma
Weight loss, Increased body weight ORPHA:1501
Magel2-Related Prader-Willi-Like Syndrome
Failure to thrive, Increased body weight, Abdominal obesity ORPHA:398069
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Increased body weight, Abdominal obesity ORPHA:189427
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Weight loss, Increased body weight, Decreased body weight ORPHA:2298
Cushing Disease
Increased body weight, Abdominal obesity, Truncal obesity ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Weight loss, Increased body weight, Abdominal obesity, Truncal obesity ORPHA:99889
Carney Complex
Tall stature, Increased body weight, Abdominal obesity ORPHA:1359

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 Rnase1

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 Rnase1.

No publications found that use IMPC mice or data for Rnase1.

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MGI Allele Allele Type Produced
Rnase1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rnase1em5(IMPC)Tcp Indel Mice, Tissue
Rnase1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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