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
decreased prepulse inhibition Rnase1em5(IMPC)Tcp HOM   Early adult 3.86×10-06
abnormal skin morphology Rnase1em5(IMPC)Tcp HOM Early adult 0.00

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 Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Histopathology

Images

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Immunophenotyping

Panel A 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
Overweight, Obesity OMIM:613375
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... OMIM:619267
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Jaundice, Increased body weight ORPHA:890
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Summitt Syndrome
Obesity OMIM:272350
Nephronophthisis 15
Elevated hepatic transaminase, Obesity OMIM:614845
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... OMIM:615888
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Glanzmann Thrombasthenia
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla... ORPHA:849
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... OMIM:273800
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Obesity ORPHA:329249
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Bleeding Disorder, Platelet-Type, 11
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Impaired ristocetin-indu... OMIM:614201
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Bardet-Biedl Syndrome 21
Overweight, Obesity, Elevated hepatic transaminase OMIM:617406
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time OMIM:608404
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time OMIM:614158
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Wilson Disease
Acute hepatic failure, Elevated hepatic transaminase, Jaundice, Increased body weight, Hepatitis,... 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, Central, With Testicular Enlargement
Overweight OMIM:300888
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight OMIM:614450
Factor V Deficiency
Prolonged bleeding time, Prolonged prothrombin time OMIM:227400
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Increased... ORPHA:263455
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Overweight, Intrahepatic cholestasis, Obesity, Elevated gamma-glut... ORPHA:69663
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Large for... OMIM:616026
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Impaired thrombin-induce... OMIM:139090
Hellp Syndrome
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Prolong... ORPHA:244242
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Prothrombin Deficiency, Congenital
Prolonged bleeding time, Prolonged prothrombin time OMIM:613679
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Abnormal er... ORPHA:264580
Storage Pool Platelet Disease
Prolonged bleeding time OMIM:185050
Sotos Syndrome
Overgrowth, Increased body weight, Tall stature, Prolonged neonatal jaundice OMIM:117550
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Increased b... ORPHA:79240
Insulinoma
Increased body weight ORPHA:97279
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Increased body weight ORPHA:398069
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Increased body weight ORPHA:189427
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
Cushing Disease
Truncal obesity, Abdominal obesity, Increased body weight ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Truncal obesity, Abdominal obesity, Increased body weight, Weight loss ORPHA:99889
Carney Complex
Abdominal obesity, Increased body weight, Tall stature 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.

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
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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