Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
isthmin 1, angiogenesis inhibitor
Synonyms:
5430433G21Rik

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 Ism1 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 Ism1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus OMIM:167755
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus OMIM:612227
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance ORPHA:140941
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Cortisone Reductase Deficiency 2
Insulin resistance OMIM:614662
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Multiple Symmetric Lipomatosis
Insulin resistance ORPHA:2398
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Type II diabetes mellitus, Insulin resistance, Diabetes mellitus ORPHA:181393
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Type II diabetes mellitus OMIM:615703
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance OMIM:147630
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus OMIM:613877
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:90301
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia OMIM:617885
Acquired Partial Lipodystrophy
Insulin resistance ORPHA:79087
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance OMIM:610947
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Maternal diabetes, Insulin-resistant diabetes mellit... OMIM:604367
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Diabetes mellitus OMIM:612526
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Diabetes mellitus OMIM:615980
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Hyperlipoproteinemia, Type Iv
Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Glucose intolerance OMIM:145750
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:79085
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia ORPHA:363400
Placental Insufficiency
Insulin resistance ORPHA:439167
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Diabetes mellitus OMIM:615381
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Type II diabetes mellitus, Hyperinsulinemia, Hyp... ORPHA:2298
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Maternal diabetes, Insulin-resistant diabetes mellitus, Diabetes mellitus ORPHA:79083
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance OMIM:214150
Mandibuloacral Dysplasia
Insulin resistance, Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:435660
Seckel Syndrome 10
Glucose intolerance, Glycosuria, Impaired glucose tolerance, Diabetes mellitus, Insulin resistance OMIM:617253
Congenital Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:528
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance ORPHA:73272
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Diabetes mellitus ORPHA:2348
Primary Lipodystrophy
Insulin resistance, Type II diabetes mellitus ORPHA:90970
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonatal hypogly... ORPHA:552
Short Syndrome
Insulin resistance, Diabetes mellitus ORPHA:3163
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Diabetic ketoacidosis, Impaired glucose tolerance... ORPHA:769
Acquired Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:79086
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Familial Multiple Lipomatosis
Insulin resistance ORPHA:199276
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia ORPHA:813
Werner Syndrome
Insulin resistance, Type II diabetes mellitus ORPHA:902
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Diabetes mellitus OMIM:616541
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Monosomy 13Q34
Insulin resistance ORPHA:96168
Whipple Disease
Insulin resistance ORPHA:3452
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia OMIM:613327
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Diabetes mellitus ORPHA:280365
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance ORPHA:90154
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance ORPHA:90153
Bardet-Biedl Syndrome 1
Insulin resistance, Diabetes mellitus OMIM:209900
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance ORPHA:96182
Aromatase Deficiency
Insulin resistance, Type II diabetes mellitus ORPHA:91
Gitelman Syndrome
Glucose intolerance, Type II diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Type I ... ORPHA:358
Bloom Syndrome
Insulin resistance, Diabetes mellitus ORPHA:125
Leprechaunism
Postprandial hyperglycemia, Hyperinsulinemia, Insulin resistance, Fasting hypoglycemia, Recurrent... ORPHA:508
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Glucose intolerance, Type I diabetes mellitus, Impaired glucose tolerance OMIM:606721
Steinert Myotonic Dystrophy
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:273
Hutchinson-Gilford Progeria Syndrome
Insulin resistance ORPHA:740
Pmm2-Cdg
Insulin resistance, Hyperinsulinemia ORPHA:79318
Alström Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Insulin resistance ORPHA:64

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 Ism1

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 Ism1.

No publications found that use IMPC mice or data for Ism1.

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MGI Allele Allele Type Produced
Ism1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ism1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ism1tm39456(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ism1em1(IMPC)Ccpcz Exon Deletion Mice

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