Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
RecQ mediated genome instability 1
Synonyms:
4932432N11Rik

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 Rmi1 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 Rmi1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Truncal obesity, Hy... ORPHA:293964
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Short Stature Due To Ghsr Deficiency
Abnormality of body weight, Hypoglycemia, Decreased body weight ORPHA:314811
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Hypoketotic hy... ORPHA:324575
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia ORPHA:67046
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hypoglycemia OMIM:232700
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia... OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age OMIM:606176
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance OMIM:147630
Type 1 Diabetes Mellitus
Hyperglycemia, Polydipsia, Diabetes mellitus, Polyphagia OMIM:222100
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Obesity, Large for gestational ag... ORPHA:552
Wolfram-Like Syndrome
Glucose intolerance, Diabetes mellitus ORPHA:411590
Hypertriglyceridemia 1
Glucose intolerance OMIM:145750
Hemochromatosis, Type 4
Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance OMIM:606069
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Glucose intolerance, Failure to thrive, Impaired glucose tol... OMIM:614407
Mandibuloacral Dysplasia
Insulin resistance, Increased subcutaneous truncal adipose tissue, Contractures of the large join... ORPHA:2457
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... ORPHA:2298
X-Linked Sideroblastic Anemia
Glucose intolerance ORPHA:75563
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Genera... OMIM:608612
Christian Syndrome
Glucose intolerance OMIM:309620
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Glucose intolerance, Impaired glucose tolerance OMIM:615630
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Obesity, Glucose intolerance, Abdominal obesity, Impaired glucose... OMIM:219090
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Diabetes mellitus, Glycosuria, Hypoglycemia OMIM:616026
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Glucose intolerance, Failure to thrive, Impaired glucose tolerance OMIM:610131
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Impaired glucose tolerance OMIM:615363
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, Decreased a... OMIM:606721
Sotos Syndrome
Glucose intolerance, Increased body weight, Aggressive behavior, Attention deficit hyperactivity ... OMIM:117550
Hemochromatosis, Type 1
Glucose intolerance, Diabetes mellitus OMIM:235200
Seckel Syndrome 10
Insulin resistance, Glycosuria, Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance OMIM:617253
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Glucose intolerance, Dorsocervical fat pad, Abdominal obesity ORPHA:189427
Gitelman Syndrome
Insulin resistance, Type I diabetes mellitus, Chondrocalcinosis, Polydipsia, Failure to thrive, G... ORPHA:358
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Glycosuria, Glucose intolerance, Failure to thrive OMIM:616539
Estrogen Resistance Syndrome
Hyperinsulinemia, Glucose intolerance ORPHA:785
Autosomal Dominant Progressive External Ophthalmoplegia
Dysphagia, Glucose intolerance, Diabetes mellitus, Failure to thrive ORPHA:254892
Ataxia-Telangiectasia
Glucose intolerance, Diabetes mellitus, Failure to thrive OMIM:208900
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Glycosuria, Glucose intolerance, Diabetes mellitus, Impaire... OMIM:137920
Aniridia 1
Increased proinsulin:insulin ratio, Glucose intolerance OMIM:106210
Primrose Syndrome
Self-injurious behavior, Glucose intolerance, Hip contracture, Knee flexion contracture, Aggressi... OMIM:259050
Turner Syndrome
Atypical scarring of skin, Failure to thrive in infancy, Obesity, Glucose intolerance, Type II di... ORPHA:881
Mosaic Monosomy X
Atypical scarring of skin, Failure to thrive in infancy, Obesity, Glucose intolerance, Type II di... ORPHA:99228
Monosomy X
Atypical scarring of skin, Failure to thrive in infancy, Obesity, Glucose intolerance, Type II di... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Atypical scarring of skin, Failure to thrive in infancy, Obesity, Glucose intolerance, Type II di... ORPHA:99413
Mandibuloacral Dysplasia Progeroid Syndrome
Generalized lipodystrophy, Flexion contracture, Glucose intolerance OMIM:619127
Williams-Beuren Syndrome
Umbilical hernia, Failure to thrive in infancy, Obesity, Glucose intolerance, Inguinal hernia, Ob... OMIM:194050

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 Rmi1

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 Rmi1.

No publications found that use IMPC mice or data for Rmi1.

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