Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
insulinoma-associated 2
Synonyms:
mlt 1

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 Insm2 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 Insm2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 7
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young OMIM:613370
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hypothyroidism, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoinsul... ORPHA:99886
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinism Due To Insr Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Insulin resistan... ORPHA:263458
Proprotein Convertase 1/3 Deficiency
Primary amenorrhea, Reactive hypoglycemia, Hypoinsulinemia, Hypogonadotropic hypogonadism, Decrea... OMIM:600955
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Congenital Glucokinase-Related Hyperinsulinism
Recurrent hypoglycemia, Fasting hyperinsulinemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Multiple pancreatic beta-cell adenomas, Insulinoma, Type II diabetes ... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Central hypothyroidism, Decreased circulating follicle stimulating... ORPHA:453533
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin... ORPHA:411593
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Abnormal circulating insulin concentration, Elevated circulating thyroid-st... ORPHA:171706
Mody
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Glycosuria, Abnormal oral gluc... ORPHA:552
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Plin1-Related Familial Partial Lipodystrophy
Oligomenorrhea, Hyperinsulinemia, Infertility, Abnormal circulating hormone concentration, Insuli... ORPHA:280356
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Maternal diabetes, Neonatal hypoglycemia, Excessive insulin response to glu... ORPHA:324575
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Primary amenorrhea, Diabetes mellitus, Delayed thelarche, Hyperinsulinemic hypog... OMIM:616033
Estrogen Resistance
Delayed puberty, Impaired glucose tolerance, Increased circulating osteocalcin level, Primary ame... OMIM:615363
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Lipodystrophy, Familial Partial, Type 3
Oligomenorrhea, Maternal diabetes, Primary amenorrhea, Hyperinsulinemia, Hyperglycemia, Type II d... OMIM:604367
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Maternal diabetes, Excessive insulin response to glucagon test, Abnormal or... ORPHA:276580
Bdv Syndrome
Delayed puberty, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Decreas... OMIM:619326
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Primary amenorrhea, Hyperinsulinemia, Hypergonadotropic hypogonadism, De... ORPHA:66628
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia, Hyperinsulinemia,... ORPHA:276608
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maternal diabetes, Hyperglycemia, Maturity-onset diabetes of the young OMIM:616329
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... OMIM:262190
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Primary amenorrhea, Hyperinsulinemia, Hypergonadotropic hypogonadism, De... ORPHA:179494
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia ORPHA:79084
Essential Fructosuria
Hyperglycemia ORPHA:2056
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Excessive insulin response to glucagon test, Hypoglycemic seizures, Hyperin... ORPHA:276575
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concent... OMIM:620211
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Nonketotic hypoglycemia, Hypog... ORPHA:293964
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Hyperglycemia, Type I diabetes mellitus OMIM:606176
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... ORPHA:71526
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:3085
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia OMIM:222100
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Estrogen Resistance Syndrome
Primary amenorrhea, Hyperinsulinemia, Glucose intolerance, Abnormality of the adrenal glands, Abs... ORPHA:785
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Hyperinsulinemia ORPHA:791
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Insulinoma
Pituitary prolactin cell adenoma, Recurrent hypoglycemia, Fasting hyperinsulinemia, Reactive hypo... ORPHA:97279
Familial Renal Glucosuria
Abnormal circulating insulin concentration, Glycosuria, Abnormal oral glucose tolerance, Hypergly... ORPHA:69076
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Hyperinsulinism Due To Ucp2 Deficiency
Excessive insulin response to glucagon test, Recurrent hypoglycemia, Reactive hypoglycemia, Hypog... ORPHA:276556
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Solitary Fibrous Tumor
Hypoinsulinemia, Recurrent hypoglycemia, Hypoglycemia ORPHA:2126
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Galactokinase Deficiency
Premature ovarian insufficiency, Hypoglycemia, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:79237
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Bangstad Syndrome
Primary gonadal insufficiency, Increased circulating cortisol level, Abnormality of the parathyro... ORPHA:1227
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Decreased circulating ACTH level, Hyperglycemia, Macronodul... OMIM:615954
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Increased serum testosterone level, Glycosuria, Postprandial hyperglycemia,... ORPHA:2298
Congenital Generalized Lipodystrophy
Oligomenorrhea, Diabetes mellitus, Precocious puberty in females, Hyperinsulinemia, Insulin resis... ORPHA:528
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Glycosuria, Pancreatic islet-cell hyperplasia, Hyper... ORPHA:263455
X-Linked Acrogigantism
Delayed puberty, Hypopituitarism, Elevated circulating growth hormone concentration, Hypogonadism... ORPHA:300373
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Donohue Syndrome
Fasting hypoglycemia, Postprandial hyperglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:246200
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia ORPHA:363400
Multiple Endocrine Neoplasia Type 4
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... ORPHA:276152
Alstrom Syndrome
Multinodular goiter, Diabetes insipidus, Decreased response to growth hormone stimulation test, H... OMIM:203800
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Retrograde ejaculation, Hyperinsulinemia ORPHA:230
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Hypogonadism, Decreased response to growth horm... ORPHA:3464
Mandibuloacral Dysplasia
Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia ORPHA:2457
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia OMIM:608612
Prader-Willi Syndrome
Oligomenorrhea, Delayed puberty, Primary amenorrhea, Decreased response to growth hormone stimula... OMIM:176270
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Lipodystrophy, Familial Partial, Type 2
Hyperglycemia, Insulin-resistant diabetes mellitus, Type II diabetes mellitus, Hyperinsulinemia OMIM:151660
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia ORPHA:79086
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperglycemia, Insulin-resistant diabetes mellitus, Impaired glucose tolerance, Hyperinsulinemia OMIM:248370
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility in females, Hyperinsulinemia, Decreased fertility, Type II diabetes mellitus,... OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Diabetes mellitus, Hyperinsulinemia, Decreased serum leptin, Insu... OMIM:608594
Atypical Werner Syndrome
Neoplasm of the thyroid gland, Delayed puberty, Premature ovarian insufficiency, Hypogonadism, Gl... ORPHA:79474
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia OMIM:613327
Leprechaunism
Fasting hypoglycemia, Hyperaldosteronism, Increased circulating renin level, Central hypothyroidi... ORPHA:508
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Decreased serum testosterone concentration, Di... ORPHA:273
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hashimoto thyroiditis, High... ORPHA:99413
Turner Syndrome
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hashimoto thyroiditis, High... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hashimoto thyroiditis, High... ORPHA:99228
Monosomy X
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hashimoto thyroiditis, High... ORPHA:99226
Alström Syndrome
Precocious puberty in females, Decreased response to growth hormone stimulation test, Hyperinsuli... ORPHA:64
Pmm2-Cdg
Elevated circulating growth hormone concentration, Increased circulating prolactin concentration,... ORPHA:79318

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 Insm2

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 Insm2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Trans-differentiation of outer hair cells into inner hair cells in the absence of INSM1. Nature (October 2018) Insm2tm1(KOMP)Vlcg 30305733

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MGI Allele Allele Type Produced
Insm2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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