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Gene: Insig1 MGI:1916289

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Gene Summary

Name:
insulin induced gene 1
Synonyms:
Insig-1,  1810013C12Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 locomotor activity Insig1em1(IMPC)Ccpcz HOM   Early adult 2.18×10-05
increased mean corpuscular hemoglobin Insig1em1(IMPC)Ccpcz HOM   Early adult 2.19×10-05
decreased circulating chloride level Insig1em1(IMPC)Ccpcz HOM   Early adult 4.62×10-05
abnormal cholesterol homeostasis Insig1em1(IMPC)Ccpcz HOM Early adult 7.00×10-07
increased freezing behavior Insig1em1(IMPC)Ccpcz HOM Early adult 7.36×10-09
abnormal maxilla morphology Insig1em1(IMPC)Ccpcz HOM   Early adult 2.48×10-05
increased aggression Insig1em1(IMPC)Ccpcz HOM Early adult 6.79×10-05
abnormal urinary bladder morphology Insig1em1(IMPC)Ccpcz HOM Early adult 0.00
decreased body weight Insig1em1(IMPC)Ccpcz HOM Early adult 1.90×10-06
increased fasting circulating glucose level Insig1em1(IMPC)Ccpcz HOM   Early adult 8.17×10-05
impaired glucose tolerance Insig1em1(IMPC)Ccpcz HOM Early adult 1.86×10-05

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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

27 Images

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X-ray

XRay Images Whole Body Lateral Orientation

17 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Hind Leg and Hip

28 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Human diseases caused by Insig1 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 Insig1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... OMIM:613090
Bartter Syndrome Type 4
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... ORPHA:89938
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ... OMIM:214700
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Irritability, Glycosuria, Postprandial hyperglyc... ORPHA:2089
Spastic Paraplegia 16, X-Linked
Restlessness, Urinary incontinence, Hypoplasia of the maxilla, Urinary urgency, Shuffling gait, L... OMIM:300266
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ... ORPHA:66624
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal salt wasting, ... OMIM:601678
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational age, Renal sa... OMIM:241200
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia ORPHA:329249
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... OMIM:606176
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... ORPHA:3077
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Long penis, Hyperkalemia,... ORPHA:90794
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hypergl... OMIM:222100
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellit... OMIM:262190
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Essential Fructosuria
Abnormal erythrocyte enzyme level, Hyperglycemia, Abnormal urine carbohydrate level ORPHA:2056
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Irritability, Abnormality... ORPHA:848
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Small for gestational age, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Small for gestational age, Decreased body weight ORPHA:93950
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin con... ORPHA:100924
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Hyperactivity, Obesity ORPHA:397973
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231226
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231214
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Micrognathia, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior... OMIM:617101
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Distal Xq28 Microduplication Syndrome
Impulsivity, Aggressive behavior, Hypoplasia of the maxilla, Self-biting, Depression, Tip-toe gai... ORPHA:293939
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Increased body weight, Depression, Abdominal obesity, Increased... OMIM:615954
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Retrognathia, Malar... OMIM:620157
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Micrognathia, Hypoplasia of the maxilla, Inability to walk, Sta... OMIM:166300
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Small for gestational age OMIM:618302
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Decreased body weight ORPHA:93945
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Restlessness, Hyperactivity, Micrognathia, Hypoplasia of the maxilla, Aggr... OMIM:300534
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Renal tubular dysfunction, Enuresis, Glycosuria, Nep... ORPHA:69076
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Failure to thrive, Small for gestational age, Slender build OMIM:608154
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, Micrognathia, Microcytic anemia, Retrognathia, Malar flattening, Failure to thrive, ... ORPHA:98791
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Renal hypoplasia OMIM:246560
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia... ORPHA:2298
Diamond-Blackfan Anemia 6
Macrocytic anemia, Micrognathia, Retrognathia, Persistence of hemoglobin F, Increased mean corpus... OMIM:612561
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, Slender build OMIM:300676
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... ORPHA:231222
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Ataxia, Aggressive behavior, Hypoplasia of the maxilla, Inability to walk, Irritability, Difficul... ORPHA:481152
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hereditary Methemoglobinemia
Small for gestational age, Athetosis, Methemoglobinemia ORPHA:621
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Micrognathia OMIM:300946
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Angelman Syndrome
Mandibular prognathia, Broad-based gait, Hyperactivity, Ataxia, Hypoplasia of the maxilla, Obesit... OMIM:105830
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Aggressive behavior ORPHA:85279
Lead Poisoning
Delayed eruption of teeth, Decreased HDL cholesterol concentration, Small for gestational age, An... ORPHA:330015
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla ORPHA:2776
Cohen Syndrome
Small for gestational age, Micrognathia, Hypoplasia of the maxilla, Leukopenia, Neutropenia, Macr... OMIM:216550
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta OMIM:601216
Cleft Lip/Palate
Agenesis of lateral incisor, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Dental maloccl... ORPHA:199306
Beta-Ketothiolase Deficiency
Ketonuria, Ataxia, Hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Weight loss, Agitation, ... ORPHA:134
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Maxillonasal Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:1248
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus OMIM:616367
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia,... ORPHA:391673
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla OMIM:156510
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... OMIM:618849
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Renal tubular dysfunction, Hyperbilirubinemia, Decreased body weigh... OMIM:614886
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Malar flattening ORPHA:261295
Lujan-Fryns Syndrome
Hypoplasia of the maxilla, Attention deficit hyperactivity disorder, Micrognathia ORPHA:776
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Type I diabetes mellitus, Hypoplasia of the maxilla, Eunuchoid habitus, Mandibular prognathia ORPHA:3044
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth, Pro... OMIM:170390
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Micrognathia, Hypoplasia of the maxilla, Aggressive behavior, Low frustration tole... OMIM:309520
Microcephaly-Capillary Malformation Syndrome
Vesicoureteral reflux, Hypoplasia of the maxilla, Failure to thrive, Small for gestational age OMIM:614261
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla ORPHA:1529
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla OMIM:618737
Malan Syndrome
Mandibular prognathia, Advanced eruption of teeth, Hyperplasia of the premaxilla, Retrognathia OMIM:614753
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Hypospadias, Abnormal dental enamel morphology, Micrognathia, Hypoplasia o... ORPHA:439822
Aarskog-Scott Syndrome
Hypoplasia of the maxilla, Attention deficit hyperactivity disorder, Delayed eruption of teeth ORPHA:915
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Inability to walk OMIM:218000
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Micrognathia, Thrombocytope... OMIM:617052
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Steatorrhea, Persistence of hemo... OMIM:260400
Frontonasal Dysplasia 1
Hypoplasia of the maxilla, Hypoplastic frontal sinuses OMIM:136760
Stickler Syndrome Type 1
Hypoplasia of the maxilla ORPHA:90653
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Hypoplas... OMIM:257850
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Pycnodysostosis
Obtuse angle of mandible, Delayed eruption of primary teeth, Micrognathia, Overweight, Hypoplasia... ORPHA:763
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:1540
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Dislocation Of The Hip-Dysmorphism Syndrome
Malar flattening, Prominence of the premaxilla ORPHA:2412
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Malar flattening ORPHA:93262
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Malar flattening, Micrognathia OMIM:241310
Cleft Velum
Hypoplasia of the maxilla, Oral-pharyngeal dysphagia ORPHA:99772
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Small for gestational age, Pure red cell aplasia, Micrognath... ORPHA:124
Carpenter Syndrome 1
Hydroureter, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth, Obesity, Poly... OMIM:201000
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla OMIM:137550
Keipert Syndrome
Hypoplasia of the maxilla ORPHA:2662
Lowry-Maclean Syndrome
Hypospadias, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Talon cu... ORPHA:2409
Recon Progeroid Syndrome
Thrombocytopenia, Prominence of the premaxilla, Delayed eruption of permanent teeth, Anemia OMIM:620370
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Renal insufficiency, Proteinuria, Hypoplasia of the maxilla, Renal hypoplasia ORPHA:1307
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Malar flattening, Micrognathia ORPHA:79113
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
7Q31 Microdeletion Syndrome
Hyperactivity, Hypoplasia of the maxilla, Enuresis nocturna, Galactosuria, Abnormal temper tantru... ORPHA:251061
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Unilateral renal age... OMIM:101800
Nager Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Unilateral renal agenesis, Micrognathia ORPHA:245
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Malar flattening, Micrognathia OMIM:108721
Crouzon Syndrome
Hypoplasia of the maxilla ORPHA:207
Coffin-Lowry Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Hypoplasia of the maxilla, Self-injurious b... ORPHA:192
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Overweight, Persistence of primary teeth OMIM:619769
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Hypoplasia of the maxilla, Decreased body weight, Retrognathia, Aplastic zygomatic ... OMIM:616462
Cerebrofacioarticular Syndrome
Ataxia, Hypospadias, Micrognathia, Hypoplasia of the maxilla, Renal hypoplasia, Self-injurious be... ORPHA:314679
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Malar flattening OMIM:109120
Aarskog-Scott Syndrome
Hypoplasia of the maxilla, Failure to thrive, Attention deficit hyperactivity disorder OMIM:305400
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Hypospadias, Absent frontal sinuses, Abnormal repetitive mannerisms, Reduc... OMIM:301040
Meier-Gorlin Syndrome 4
Hypoplasia of the maxilla, Failure to thrive, Micrognathia OMIM:613804
Andersen-Tawil Syndrome
Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teet... ORPHA:37553
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Splenomegaly, Retrognathia, Micrognathia OMIM:608149
Dyskeratosis Congenita
Diabetes mellitus, Abnormality of neutrophils, Hypoplasia of the maxilla, Thrombocytopenia, Splen... ORPHA:1775
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Micropenis, Failure to thrive, Micrognathia OMIM:613805
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Abnormal hemoglobin, Depression, Self-injurious behavior, Hydronephrosis, An... ORPHA:847
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin ORPHA:423479
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias OMIM:250790
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Hypoplasia of the maxilla ORPHA:228396
Cohen Syndrome
Failure to thrive in infancy, Micrognathia, Hypoplasia of the maxilla, Obesity, Hypoplasia of the... ORPHA:193
Acrodysostosis
Mandibular prognathia, Hypoplasia of the maxilla, Delayed eruption of teeth ORPHA:950
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla OMIM:167730
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Failure to thrive, Delayed eruption of primary teeth OMIM:620099
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Thymoma
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weig... ORPHA:99867
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypoplasia of the maxilla, Hypospadias OMIM:601499
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Carious teeth, Abnormal dental ename... ORPHA:1798
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Marshall Syndrome
Micrognathia, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Hypoplasia of the zygomatic... ORPHA:560
Van Maldergem Syndrome 1
Hypospadias, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Renal hypoplasia, Mala... OMIM:601390
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Hypospadias ORPHA:782
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Unilateral renal agenesis, Micrognathia, Hypoplasia of the maxilla, Large for gestational age, Ga... OMIM:213980
Van Maldergem Syndrome 2
Hypospadias, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Renal hypoplasia, Mala... OMIM:615546
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla OMIM:619142
Temtamy Preaxial Brachydactyly Syndrome
Hypoplasia of the maxilla, Talon cusp, Micrognathia ORPHA:363417
Floating-Harbor Syndrome
Restlessness, Broad-based gait, Hypospadias, Small for gestational age, Impulsivity, Persistence ... ORPHA:2044
Meier-Gorlin Syndrome 3
Microretrognathia, Hypospadias, Micrognathia, Hypoplasia of the maxilla, Micropenis, Failure to t... OMIM:613803
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla, Micropenis, Hypospadias OMIM:106260
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Micrognathia, Reticulocytopenia, Renal hypoplas... OMIM:105650
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Nephrotic syndrome, Hypoplasia of the maxilla, Failure to thrive ORPHA:238468
Treacher-Collins Syndrome
Hypoplasia of penis, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, ... ORPHA:861
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Retrognathia, Failure to thrive OMIM:601812
Martsolf Syndrome 1
Hypoplasia of the maxilla, Micropenis, Micrognathia OMIM:212720
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Carious teeth, Abnorma... ORPHA:353281
Rapp-Hodgkin Syndrome
Hypospadias, Hypoplasia of the maxilla, Carious teeth, Taurodontia, Enamel hypoplasia OMIM:129400
8Q22.1 Microdeletion Syndrome
Hypoplasia of the maxilla ORPHA:178303
Pfeiffer Syndrome
Mandibular prognathia, Hypoplasia of the maxilla OMIM:101600
Crouzon Syndrome
Mandibular prognathia, Hypoplasia of the maxilla OMIM:123500
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Hypospadias, Hypoplasia of the maxilla, Eruptio... OMIM:166250
Marshall-Smith Syndrome
Microretrognathia, Prominence of the premaxilla, Retrognathia, Decreased body weight, Short mandi... OMIM:602535
Rubinstein-Taybi Syndrome 1
Accessory spleen, Hyperactivity, Hypospadias, Small for gestational age, Impulsivity, Micrognathi... OMIM:180849
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Hypospadias, Micrognathia, Hypoplasia of the maxilla, Epispadias, Retrognath... ORPHA:2554
Cowden Syndrome 1
Hypoplasia of the maxilla, Lymphopenia, Micrognathia OMIM:158350
Geroderma Osteodysplasticum
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening OMIM:231070
Mohr Syndrome
Hypoplasia of the maxilla, Malar flattening, Agenesis of central incisor, Micrognathia OMIM:252100
Cowden Syndrome 5
Hypoplasia of the maxilla, Micrognathia OMIM:615108
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Gait disturbance, Delayed eruption of teeth, Micrognathia OMIM:259600
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Hypoplasia of teeth ORPHA:50814
Shprintzen-Goldberg Syndrome
Hypoplasia of the maxilla, Failure to thrive, Retrognathia, Micrognathia ORPHA:2462
Cowden Syndrome 6
Hypoplasia of the maxilla, Micrognathia OMIM:615109
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Apert Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Delayed eruption of teeth ORPHA:87
Primrose Syndrome
Restlessness, Diabetes mellitus, Ataxia, Elevated circulating alpha-fetoprotein concentration, Ag... OMIM:259050
Meier-Gorlin Syndrome 1
Small for gestational age, Micrognathia, Hypoplasia of the maxilla, Micropenis, Failure to thrive OMIM:224690
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine ORPHA:79345
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Myhre Syndrome
Abnormal penis morphology, Mandibular prognathia, Craniofacial hyperostosis, Hypospadias, Hypopla... ORPHA:2588
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla ORPHA:2095
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypospadias, Hypoplasia of the maxilla, Supernu... OMIM:211380
Shprintzen-Goldberg Craniosynostosis Syndrome
Hypoplasia of the maxilla, Dental malocclusion, Micrognathia OMIM:182212
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla ORPHA:2399
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydroureter, Hypoplasia of the maxilla, Carious teeth, Urethral stenosis, Megacystis, Bladder div... OMIM:604292
Frontorhiny
Hypoplasia of the maxilla, Hypoplastic frontal sinuses ORPHA:391474
3Mc Syndrome 2
Prominence of the premaxilla, Hypospadias, Horseshoe kidney OMIM:265050
Branchioskeletogenital Syndrome
Mandibular prognathia, Ureteral stenosis, Hypoplasia of the maxilla, Carious teeth, Micropenis, A... ORPHA:1299
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Hyperactivity, Hypospadias, Impulsivity, Micrognathia, Carious teeth, Abnormal fear-... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Hyperactivity, Hypospadias, Impulsivity, Micrognathia, Carious teeth, Abnormal fear-... ORPHA:353277
Myhre Syndrome
Mandibular prognathia, Small for gestational age, Ataxia, Hypoplasia of the maxilla, Obesity, Mal... OMIM:139210
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla, Horseshoe kidney, Failure ... ORPHA:1106
Nablus Mask-Like Facial Syndrome
Hypoplasia of the maxilla, Micropenis, Retrognathia OMIM:608156
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Dental... OMIM:209885
Goldberg-Shprintzen Syndrome
Vesicoureteral reflux, Hypoplasia of the maxilla OMIM:609460
Holoprosencephaly 9
Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Agenesis of incisor, Dental malocclusion... OMIM:610829
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla ORPHA:794
Greenberg Dysplasia
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Hepatosplenomegaly OMIM:215140
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydroureter, Hypoplasia of the maxilla, Carious teeth, Bladder diverticulum, Ureterocele, Vesicou... OMIM:129900
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Hypoplasia of the maxilla, Nephrocalcinosis, Decreased body weight, Malar ... OMIM:617402
Van Den Ende-Gupta Syndrome
Hypoplasia of the maxilla, Malar flattening, Micrognathia OMIM:600920
Bartsocas-Papas Syndrome 1
Hypoplasia of the maxilla, Micropenis, Micrognathia, Ectopic kidney OMIM:263650
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Hypoplasia of the maxilla, Horseshoe kidney, Failure to thrive OMIM:617140
Stickler Syndrome
Abnormal dental enamel morphology, Cachexia, Micrognathia, Hypoplasia of the maxilla, Advanced er... ORPHA:828
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:1101
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla OMIM:277600
Distal Deletion 19P
Hypoplasia of the maxilla ORPHA:96129
Aicardi Syndrome
Prominence of the premaxilla ORPHA:50
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Micrognathia, Large for gestational age, Hypoplasia of the maxilla, Hepato... ORPHA:96334
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Hypoplasia of penis, Hypoplasia of the zygomatic bone ORPHA:920
Aicardi Syndrome
Prominence of the premaxilla OMIM:304050
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypoplasia of the maxilla, Taurodontia OMIM:305100
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla OMIM:608328
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Micrognathia OMIM:614437
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Micrognathia, Hypoplasia of the maxilla, Renal hypoplasia, Age... OMIM:261540
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Failure to thrive in infancy, Unilateral renal agenesis, Hypoplasia of the maxilla, Horseshoe kid... ORPHA:500150
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the frontal sinuses, Hypoplasia of the frontal bone ORPHA:306542
Singleton-Merten Syndrome 1
Waddling gait, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Decreased body weight,... OMIM:182250
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Supernumerary tooth,... OMIM:614188
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Malar flattening, Cleft of chin OMIM:101400
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla, Hypospadias OMIM:180500
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Ectopic kidney, Hypoplasia of the maxilla, Micrognathia, Vesicouret... OMIM:164210
Spondyloepimetaphyseal Dysplasia, X-Linked
Waddling gait, Hypoplasia of the maxilla OMIM:300106
Holoprosencephaly 2
Malar flattening, Aplasia of the premaxilla OMIM:157170

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 Insig1

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 Insig1.

No publications found that use IMPC mice or data for Insig1.

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
Insig1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Insig1em1(IMPC)Ccpcz Exon Deletion Mice
Insig1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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