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Gene: 4931414P19Rik MGI:1921609

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
RIKEN cDNA 4931414P19 gene
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 4931414P19Rik 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 4931414P19Rik by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thyroid Hormone Metabolism, Abnormal, 1
Increased circulating free T4 concentration, Elevated circulating thyroid-stimulating hormone con... OMIM:609698
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration OMIM:615999
Thyroid Hormone Metabolism, Abnormal, 3
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Incre... OMIM:620198
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... OMIM:300888
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Thyroid Hormone Resistance, Selective Pituitary
Hyperthyroidism, Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulatin... OMIM:145650
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... OMIM:176400
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301033
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism OMIM:603373
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... OMIM:618573
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism OMIM:275120
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Wolfram-Like Syndrome
Diabetes mellitus, Primary gonadal insufficiency, Delayed puberty, Male hypogonadism, Central dia... ORPHA:411590
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Hypothyroidism, Congenital, Nongoitrous, 4
Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypothyroidism OMIM:275100
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... OMIM:274300
Premature Ovarian Failure 10
Hypoplasia of the ovary, Hypothyroidism, Elevated circulating follicle stimulating hormone level,... OMIM:612885
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620211
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... OMIM:619326
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... OMIM:613239
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism OMIM:241850
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... OMIM:616950
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... OMIM:619755
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Joubert Syndrome 26
Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hypothyroidism OMIM:616784
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Hypothyroidism, Congenital, Nongoitrous, 6
Impaired sensitivity to thyroid hormone, Increased T3/T4 ratio, Congenital hypothyroidism OMIM:614450
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Hypogonadism, Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:3363
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Precocious puberty, Abnormal circulating renin, Increased c... OMIM:614736
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulating luteinizing h... ORPHA:453533
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... OMIM:615842
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology OMIM:615542
Hawkinsinuria
Hypothyroidism ORPHA:2118
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Allan-Herndon-Dudley Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:300523
Thyroid Lymphoma
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... ORPHA:95715
Athyreosis
Thyroid agenesis, Hypothyroidism ORPHA:95713
Gne Myopathy
Hypothyroidism ORPHA:602
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Hypothyroidism OMIM:618625
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism ORPHA:88643
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty ORPHA:52022
Pendred Syndrome
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter ORPHA:705
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism ORPHA:2349
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... OMIM:616113
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... OMIM:609152
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1882
Maternal Uniparental Disomy Of Chromosome 9
Congenital hypothyroidism ORPHA:96183
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Stiff Person Spectrum Disorder
Diabetes mellitus, Hypothyroidism, Hyperhidrosis ORPHA:3198
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypothyroidism, Hypogonadotropic hypogonadism ORPHA:752
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Elevate... OMIM:612462
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism OMIM:619851
Igg4-Related Thyroid Disease
Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi... ORPHA:64744
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Dystonia 28
Precocious puberty, Hypothyroidism ORPHA:589618
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Decreas... OMIM:240300
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism OMIM:613970
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Developmental And Epileptic Encephalopathy 90
Hypothyroidism OMIM:301058
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Hypothyroidism, Delayed puberty ORPHA:2994
Subcorneal Pustular Dermatosis
Hyperthyroidism, Hypothyroidism ORPHA:48377
14Q11.2 Microduplication Syndrome
Hypothyroidism ORPHA:261229
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Diabetes mellitus, Hypothyroidism, Abnormality of the thyroi... ORPHA:77296
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:618347
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Adrenal hypoplasia, Hypothyroidism, Delayed puberty, Abnormality of ... ORPHA:95496
Li-Campeau Syndrome
Hypothyroidism OMIM:619189
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypothyroidism ORPHA:2491
Pseudohypoparathyroidism, Type Ia
Hypogonadism, Elevated circulating parathyroid hormone level, Hypothyroidism, Pseudohypoparathyro... OMIM:103580
Congenital Disorder Of Glycosylation, Type Ih
Decreased circulating T4 concentration, Hypothyroidism OMIM:608104
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Hypothyroidism ORPHA:391372
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Hypothyroidism ORPHA:1923
Atelis Syndrome 1
Hypothyroidism OMIM:620184
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism ORPHA:352530
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypothyroidism OMIM:619013
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism OMIM:619908
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism OMIM:225050
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypothyroidism, Hypohidrosis ORPHA:1563
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter OMIM:615108
Potocki-Lupski Syndrome
Hypothyroidism OMIM:610883
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypogonadism, Type II diabetes mellitus, Type I diabetes mellitus, Delayed menarche, Hypothyroidi... ORPHA:412057
Jung Syndrome
Hypothyroidism ORPHA:2321
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypothyroidism, Delayed puberty OMIM:616817
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... OMIM:610978
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Hypothyroidism, Decreased response to growth hormon... ORPHA:363528
Multifocal Atrial Tachycardia
Hypothyroidism ORPHA:3282
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter OMIM:615109
Congenital Disorder Of Glycosylation, Type Ii
Hypothyroidism OMIM:607906
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypothyroidism, Delayed puberty ORPHA:391408
Aa Amyloidosis
Hypothyroidism, Adrenal insufficiency ORPHA:85445
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty OMIM:615952
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism OMIM:600430
4H Leukodystrophy
Abnormality of thyroid physiology, Hypogonadotropic hypogonadism, Decreased response to growth ho... ORPHA:289494
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... OMIM:269200
Isolated Atp Synthase Deficiency
Hypogonadism, Hypothyroidism ORPHA:254913
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Wolfram Syndrome 1
Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy OMIM:222300
Cystinosis
Nephrogenic diabetes insipidus, Type I diabetes mellitus, Hypothyroidism, Delayed puberty ORPHA:213
Autosomal Dominant Optic Atrophy, Classic Form
Hypogonadism, Diabetes mellitus, Hypothyroidism ORPHA:98673
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism OMIM:619750
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Reni Syndrome
Hypogonadism, Hypothyroidism, Adrenal insufficiency OMIM:617575
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased serum testosterone concentration, Hyp... ORPHA:465508
Immunodeficiency 102
Hypothyroidism OMIM:301082
B4Galt1-Cdg
Hypothyroidism ORPHA:79332
Bone Marrow Failure Syndrome 6
Hypothyroidism OMIM:618849
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism OMIM:618999
Monosomy 18P
Hypothyroidism ORPHA:1598
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism OMIM:618829
Ddost-Cdg
Primary hypothyroidism ORPHA:300536
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Congenital hypothyroidism OMIM:614613
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism OMIM:617763
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Adrenal insufficiency ORPHA:300298
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Congenital hypothyroidism OMIM:601427
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:424
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter OMIM:158350
Omenn Syndrome
Hypothyroidism, Thyroiditis ORPHA:39041
Adiposis Dolorosa
Hypothyroidism, Xerostomia ORPHA:36397
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98754
Smith-Magenis Syndrome
Precocious puberty, Hypothyroidism, Delayed puberty ORPHA:819
Nephrotic Syndrome, Type 1
Hypothyroidism OMIM:256300
Timothy Syndrome
Hypothyroidism OMIM:601005
Intellectual Developmental Disorder, Autosomal Dominant 52
Hypothyroidism OMIM:617796
Wolcott-Rallison Syndrome
Hypothyroidism, Central hypothyroidism, Neonatal insulin-dependent diabetes mellitus, Exocrine pa... ORPHA:1667
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98793
Galloway-Mowat Syndrome 10
Congenital hypothyroidism OMIM:619609
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Diabetes mellitus, Hyperthyroidism, Hypothyroidism ORPHA:449291
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Diabetes mellitus, Hypothyroidism ORPHA:263297
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177901
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Hypothyroidism ORPHA:231222
Seckel Syndrome 7
Central hypothyroidism OMIM:614851
Rabson-Mendenhall Syndrome
Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperin... ORPHA:769
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Abnormality of the thyroid gland, E... ORPHA:209905
19P13.12 Microdeletion Syndrome
Precocious puberty, Hypothyroidism ORPHA:254346
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Fanconi Anemia, Complementation Group I
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:609053
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hypothyroidism OMIM:304790
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Hypothyroidism, Hashimoto thyroiditis OMIM:613385
Thyroid Ectopia
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid ORPHA:95712
Lig4 Syndrome
Hypothyroidism, Type II diabetes mellitus ORPHA:99812
Distal Xq28 Microduplication Syndrome
Hypothyroidism ORPHA:293939
Lig4 Syndrome
Hypothyroidism, Type II diabetes mellitus OMIM:606593
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism ORPHA:505395
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadi... ORPHA:2905
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism ORPHA:397590
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypothyroidism ORPHA:85321
Fragile X Tremor/Ataxia Syndrome
Hypothyroidism OMIM:300623
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Hypothyroidism, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:619234
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Type I diabetes mellitus, Hypothyroidism, Thyroiditis OMIM:606367
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism ORPHA:90065
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H... ORPHA:231226
Fucosidosis
Hypothyroidism, Hyperhidrosis ORPHA:349
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Diabetes insipidus OMIM:225750
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Diabetes mellitus, Hypothyroidism, Delayed puberty ORPHA:456312
Hydatidiform Mole
Hyperthyroidism ORPHA:99927
Cenani-Lenz Syndrome
Hypothyroidism ORPHA:3258
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:618922
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:618183
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Elevat... OMIM:101800
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Xerostomia, Absence of pub... ORPHA:398079
Immunodeficiency, Common Variable, 8, With Autoimmunity
Type I diabetes mellitus, Hypothyroidism, Thyroiditis OMIM:614700
Microform Holoprosencephaly
Hypothyroidism, Panhypopituitarism, Maternal diabetes ORPHA:280200
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism OMIM:617713
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypothyroidism OMIM:619147
Down Syndrome
Hypothyroidism, Type II diabetes mellitus ORPHA:870
3-Methylglutaconic Aciduria Type 7
Hypothyroidism ORPHA:445038
Secondary Short Bowel Syndrome
Primary hypothyroidism, Central hypothyroidism ORPHA:95427
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Type I diabetes mellitus, Hypothyroidism, Thyroiditis ORPHA:228426
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1812
Dysbetalipoproteinemia
Acute pancreatitis, Diabetes mellitus, Hypothyroidism ORPHA:412
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism ORPHA:2479
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypothyroidism OMIM:226300
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H... ORPHA:231214
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Hypothyroidism ORPHA:69665
Koolen-De Vries Syndrome
Hypothyroidism ORPHA:96169
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Melas
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Recurrent pancreatitis, Typ... ORPHA:550
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hypothyroidism OMIM:251900
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Premature thelarche, Premature pubarche OMIM:616878
Tbck-Related Intellectual Disability Syndrome
Central adrenal insufficiency, Hyperthyroidism, Hypothyroidism, Decreased response to growth horm... ORPHA:488632
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Hypothyroidism OMIM:616541
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Decreased circulating T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stimulati... OMIM:610199
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:96179
Dilated Cardiomyopathy With Ataxia
Hypothyroidism ORPHA:66634
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hypothyroidism OMIM:619487
Oculoskeletodental Syndrome
Hypothyroidism OMIM:618440
Whipple Disease
Hypothyroidism ORPHA:3452
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hyperthyroidism, Abnormality of the endocrine system, Thyroiditis, Type I diabetes mellitus, Hypo... ORPHA:37042
Allan-Herndon-Dudley Syndrome
Abnormality of thyroid physiology ORPHA:59
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism ORPHA:98808
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism ORPHA:514
Ring Chromosome 12 Syndrome
Hypothyroidism ORPHA:1439
Mosaic Variegated Aneuploidy Syndrome 2
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:614114
Spondyloenchondrodysplasia
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:1855
Mccune-Albright Syndrome
Abnormal endocrine physiology, Hyperthyroidism, Elevated circulating growth hormone concentration... ORPHA:562
T-Cell Immunodeficiency With Thymic Aplasia
Hypothyroidism, Thyroiditis, Aplasia of the thymus ORPHA:83471
Congenital Disorder Of Glycosylation, Type Ia
Hypergonadotropic hypogonadism, Hypothyroidism OMIM:212065
Ohdo Syndrome, Sbbys Variant
Hypothyroidism OMIM:603736
Chromosome 1P35 Deletion Syndrome
Congenital hypothyroidism OMIM:617930
Mogs-Cdg
Inappropriate antidiuretic hormone secretion, Hypothyroidism ORPHA:79330
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Hypothyroidism, Goiter ORPHA:254892
Monosomy 18Q
Hypothyroidism, Secondary growth hormone deficiency ORPHA:1600
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism OMIM:618005
Alexander Disease
Precocious puberty, Diabetes mellitus, Hypothyroidism, Hyperhidrosis ORPHA:58
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Precocious puberty, Xerostomia, Ab... ORPHA:398069
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism OMIM:618569
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Exocrine pancreatic insufficiency, Diabetes mellitus, Hypothyroidism, Delayed puberty OMIM:616263
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Abnormality of endocrine pancreas physiology, Diabet... ORPHA:93111
Trichohepatoneurodevelopmental Syndrome
Recurrent pancreatitis, Hypothyroidism, Exocrine pancreatic insufficiency OMIM:618268
Familial Adenomatous Polyposis
Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neoplasm of the adrenal gland, ... ORPHA:733
Pseudoxanthoma Elasticum
Hypothyroidism ORPHA:758
Neuhauser Syndrome
Primary hypothyroidism OMIM:249310
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Congenital hypothyroidism ORPHA:2519
Isolated Biliary Atresia
Hypopituitarism, Hypothyroidism ORPHA:30391
Martin-Probst Syndrome
Hypothyroidism OMIM:300519
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypothyroidism ORPHA:453499
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Central hypothyroidism OMIM:300998
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism OMIM:607944
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Increased circulating gonadotropin level, Delayed puberty, Decreased serum testoste... ORPHA:1772
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism OMIM:613673
Immunodeficiency 31C
Diabetes mellitus, Hypothyroidism, Delayed puberty OMIM:614162
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid agenesis, Ectopic thyroid, Hypothyroidism, Thyroid hypoplasia ORPHA:3047
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Interstitial Lung And Liver Disease
Hypothyroidism OMIM:615486
Fragile X-Associated Tremor/Ataxia Syndrome
Hypothyroidism ORPHA:93256
Myasthenia Gravis
Hyperthyroidism, Abnormal thymus morphology, Primary adrenal insufficiency, Hashimoto thyroiditis ORPHA:589
Lymphatic Malformation 6
Hypothyroidism OMIM:616843
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Decreased response to growth hormone stimulation test, Adr... ORPHA:699
Tuberous Sclerosis 1
Precocious puberty, Hypothyroidism OMIM:191100
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Compensated hypothyroidism ORPHA:247691
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Palmoplantar hyperhidrosis, Congenital hypothyroidism OMIM:617527
Intellectual Developmental Disorder, X-Linked 98
Central hypothyroidism OMIM:300912
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Hypothyroidism ORPHA:457212
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Abnormality of thyroid physiology ORPHA:1830
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Compensated hypothyroidism ORPHA:480864
Neurooculorenal Syndrome
Central hypothyroidism, Decreased circulating cortisol level, Decreased circulating ACTH concentr... OMIM:620305
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Thyroid carcinoma ORPHA:276399
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pancreatitis, Hypothyroidism, Thyroiditis, Delayed puberty ORPHA:79259
Peripartum Cardiomyopathy
Diabetes mellitus, Abnormality of thyroid physiology ORPHA:563
Rothmund-Thomson Syndrome Type 1
Hypogonadism, Hypothyroidism ORPHA:221008
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Precocious puberty, Primary adrenal insuff... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Primary adrenal insuff... ORPHA:363958
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypothyroidism, Hyperhidrosis ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypothyroidism, Hyperhidrosis ORPHA:352665
Abetalipoproteinemia
Hypothyroidism ORPHA:14
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Aplasia of the thymus, Hypothyroidism, Thyroid hypoplasia, Congenital hypothyroidism OMIM:620186
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Hypothyroidism, Exocrine pancreatic insufficiency OMIM:620005
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Scleromyxedema
Abnormality of thyroid physiology ORPHA:167635
Tuberous Sclerosis 2
Precocious puberty, Hypothyroidism OMIM:613254
Mosaic Variegated Aneuploidy Syndrome
Hypothyroidism ORPHA:1052
Hallermann-Streiff Syndrome
Hypothyroidism ORPHA:2108
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Abnormality of the en... ORPHA:268261
Syndromic Diarrhea
Hypothyroidism, Hypoplasia of the thymus ORPHA:84064
White-Kernohan Syndrome
Hypothyroidism OMIM:619426
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypothyroidism, Hyperthyroidism, Hypoplasia of the thymus ORPHA:567
Bilateral Polymicrogyria
Central hypothyroidism ORPHA:268940
Cutis Marmorata Telangiectatica Congenita
Hypothyroidism ORPHA:1556
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Stüve-Wiedemann Syndrome
Hypohidrosis, Hypothyroidism, Ectopic thyroid, Hyperhidrosis ORPHA:3206
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormality of the endocrine system, Thyroiditis, Primary hypothyroidism, Delayed puberty, Type I... ORPHA:391487
Cerebrotendinous Xanthomatosis
Hypothyroidism ORPHA:909
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... ORPHA:293987
Aicardi-Goutieres Syndrome 7
Hypothyroidism OMIM:615846
Aicardi-Goutières Syndrome
Diabetes mellitus, Hypothyroidism ORPHA:51
Juvenile Nephropathic Cystinosis
Hypothyroidism ORPHA:411634
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:444077
Leprechaunism
Hyperaldosteronism, Hyperinsulinemia, Increased circulating renin level, Central hypothyroidism ORPHA:508
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Digeorge Syndrome
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Parathyroid hypoplasia, Ab... OMIM:188400
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormality of thyroid physiology OMIM:300968
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Congenital hypothyroidism OMIM:271510
Intellectual Developmental Disorder, Autosomal Dominant 42
Congenital hypothyroidism OMIM:616973
Down Syndrome
Hypothyroidism OMIM:190685
Gabriele-De Vries Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:506358
Beckwith-Wiedemann Syndrome
Adrenocortical cytomegaly, Adrenocortical carcinoma, Pseudohypoparathyroidism, Hypothyroidism, Ex... ORPHA:116
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Cystinosis, Nephropathic
Diabetes mellitus, Hypohidrosis, Primary hypothyroidism, Delayed puberty, Male hypogonadism, Exoc... OMIM:219800
1P36 Deletion Syndrome
Hypothyroidism, Hypogonadism ORPHA:1606
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the endocrine system, Precocious puberty, Abnormality of the anterior pituitary, H... ORPHA:438213
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Microphthalmia, Syndromic 2
Hypothyroidism, Adrenal insufficiency OMIM:300166
Sarcoidosis
Hyperthyroidism, Diabetes insipidus, Abnormality of the adrenal glands, Hypothyroidism, Parotitis ORPHA:797
Coffin-Siris Syndrome 12
Hypothyroidism OMIM:619325
Chromosome 1P36 Deletion Syndrome, Distal
Hypothyroidism, Congenital hypothyroidism OMIM:607872
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:214800
Williams Syndrome
Precocious puberty, Hypothyroidism, Hypogonadotropic hypogonadism, Type II diabetes mellitus ORPHA:904
Microphthalmia, Syndromic 6
Female hypogonadism, Adrenal hypoplasia, Anterior hypopituitarism, Abnormality of the hypothalamu... OMIM:607932
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology ORPHA:411629
Schinzel-Giedion Syndrome
Streak ovary, Central hypothyroidism ORPHA:798
Sponastrime Dysplasia
Precocious puberty, Hypothyroidism ORPHA:93357
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Anterior pituita... ORPHA:2255
Williams-Beuren Syndrome
Early onset of sexual maturation, Diabetes mellitus, Hypothyroidism OMIM:194050
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypothyroidism, Primary hypothyroidism, Exocrine pancreatic insufficiency OMIM:243800
Primrose Syndrome
Diabetes mellitus, Hypothyroidism, Hypergonadotropic hypogonadism, Delayed puberty OMIM:259050
Ring Chromosome 13 Syndrome
Primary hypothyroidism ORPHA:96176
Viss Syndrome
Hypothyroidism OMIM:619472
Doors Syndrome
Adrenal hyperplasia, Congenital hypothyroidism ORPHA:79500
Genitopatellar Syndrome
Hypothyroidism OMIM:606170
Townes-Brocks Syndrome
Hypothyroidism, Delayed puberty ORPHA:857
Townes-Brocks Syndrome 1
Hypothyroidism OMIM:107480
Peters Plus Syndrome
Anterior hypopituitarism, Congenital hypothyroidism ORPHA:709
Kabuki Syndrome 1
Premature thelarche, Congenital hypothyroidism OMIM:147920
Sotos Syndrome
Hypothyroidism ORPHA:821
Alström Syndrome
Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado... 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 4931414P19Rik

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 4931414P19Rik.

No publications found that use IMPC mice or data for 4931414P19Rik.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
4931414P19Riktm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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