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

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 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
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Abnormal thyroid-stimulating hormone level, Increased circulating fr... OMIM:615999
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:609698
Thyroid Hormone Metabolism, Abnormal, 3
Increased circulating free T3, Abnormal thyroid-stimulating hormone level, Abnormal circulating f... OMIM:620198
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter, Decreased circu... OMIM:274500
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to... OMIM:300888
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274700
Thyroid Hormone Resistance, Selective Pituitary
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... OMIM:145650
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Hypothyroidism, Thyroid h... OMIM:275200
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism 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, Impaired sensitivity to thyroid hormone, Increased circulating fre... OMIM:188570
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency OMIM:262700
Hyperthyroidism, Familial Gestational
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroidism OMIM:603373
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... OMIM:262600
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla... OMIM:225250
Hypothyroidism, Congenital, Nongoitrous, 7
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Decreased circulating T4... OMIM:618573
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Wolfram-Like Syndrome
Delayed puberty, Central diabetes insipidus, Male hypogonadism, Hypothyroidism, Primary gonadal i... ORPHA:411590
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration OMIM:275100
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Transie... ORPHA:99886
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Premature Ovarian Failure 10
Hypoplasia of the ovary, Hypothyroidism, Elevated circulating follicle stimulating hormone level,... OMIM:612885
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hypothyroidism OMIM:620211
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... 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
Pancreatic endocrine tumor, Primary hyperparathyroidism, Hypothyroidism, Hashimoto thyroiditis, C... OMIM:610755
Pendred Syndrome
Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274600
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid... OMIM:613239
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism OMIM:241850
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Thyroi... ORPHA:95716
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Reduced... OMIM:613038
Joubert Syndrome 26
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:616784
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism OMIM:614450
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Decreased circulating ... OMIM:614736
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Hypogonadism ORPHA:3363
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology OMIM:615542
Thyroid Lymphoma
Hypothyroidism, Hashimoto thyroiditis, Goiter, Hyperthyroidism ORPHA:97285
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Decreased thyroid-stimulating hormone level, Reduced radioacti... ORPHA:95715
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s... ORPHA:90673
Allan-Herndon-Dudley Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:300523
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615841
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Gne Myopathy
Hypothyroidism ORPHA:602
Hawkinsinuria
Hypothyroidism ORPHA:2118
Athyreosis
Hypothyroidism, Thyroid agenesis ORPHA:95713
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Male hypogonadism 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
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615842
Potocki-Shaffer Syndrome
Delayed puberty, Hypothyroidism ORPHA:52022
Pendred Syndrome
Hypothyroidism, Goiter, Thyroid carcinoma, Hyperparathyroidism ORPHA:705
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism ORPHA:2349
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Graves disease, Hashimoto thyroiditis, Primary adrenal insufficiency, Abnorma... ORPHA:3143
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Central hypothyroidism, Type I diabetes mellitus, Abnormal thyroid... OMIM:616113
Hyperthyroidism, Nonautoimmune
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... OMIM:609152
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
Hypothyroidism, Diabetes mellitus, Hyperhidrosis ORPHA:3198
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypothyroidism, Hypogonadotropic hypogonadism ORPHA:752
Igg4-Related Thyroid Disease
Euthyroid goiter, Thyroiditis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morph... ORPHA:64744
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Dystonia 28
Hypothyroidism, Precocious puberty ORPHA:589618
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism OMIM:619851
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Female hypogonadism, Hypothyroidism, Primary adrenal insufficiency, Decreased... OMIM:240300
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Congenital hypothyroidism... ORPHA:226313
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Reduce... ORPHA:99832
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism OMIM:613970
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla... OMIM:218700
Developmental And Epileptic Encephalopathy 90
Hypothyroidism OMIM:301058
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Delayed puberty, Hypothyroidism ORPHA:2994
14Q11.2 Microduplication Syndrome
Hypothyroidism ORPHA:261229
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Diabetes mellitus, Abnormality of the thyroid gland, Abnormality of the endocrine... ORPHA:77296
Subcorneal Pustular Dermatosis
Hypothyroidism, Hyperthyroidism ORPHA:48377
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:618347
Li-Campeau Syndrome
Hypothyroidism OMIM:619189
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitar... ORPHA:95496
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasia, Abnormal radi... ORPHA:226316
Mccune-Albright Syndrome
Precocious puberty, Pituitary adenoma, Hyperthyroidism, Elevated circulating growth hormone conce... OMIM:174800
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypothyroidism ORPHA:2491
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypothyroidism, Hypogon... OMIM:103580
Congenital Disorder Of Glycosylation, Type Ih
Hypothyroidism, Decreased circulating T4 concentration OMIM:608104
Chromosome 1P35 Deletion Syndrome
Congenital hypothyroidism OMIM:617930
Foxp1 Syndrome
Hypothyroidism, Diabetes mellitus ORPHA:391372
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Abnormality of th... ORPHA:95712
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypothyroidism OMIM:619013
Methimazole Embryofetopathy
Hypothyroidism, Abnormality of the thyroid gland ORPHA:1923
Atelis Syndrome 1
Hypothyroidism OMIM:620184
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism ORPHA:352530
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism OMIM:619908
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism OMIM:225050
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... OMIM:610978
Potocki-Lupski Syndrome
Hypothyroidism OMIM:610883
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Congenital hypothyroidism, Precocious... ORPHA:361
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Familial Gestational Hyperthyroidism
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating thyroid-stimulating hormo... ORPHA:99819
Dahlberg-Borer-Newcomer Syndrome
Hypothyroidism, Hypoparathyroidism, Hypohidrosis ORPHA:1563
Cowden Syndrome 5
Thyroiditis, Hypothyroidism, Hyperthyroidism, Thyroid adenoma, Goiter OMIM:615108
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Delayed puberty, Hypothyroidism OMIM:616817
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Pancreatitis, Delayed menarche, Hypothyroidism, Type II diabetes mellitus, Hypogonadism, Type I d... ORPHA:412057
Jung Syndrome
Hypothyroidism ORPHA:2321
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Multifocal Atrial Tachycardia
Hypothyroidism ORPHA:3282
Intellectual Disability-Strabismus Syndrome
Hypohidrosis, Decreased response to growth hormone stimulation test, Hypothyroidism, Decreased se... ORPHA:363528
Aa Amyloidosis
Hypothyroidism, Adrenal insufficiency ORPHA:85445
Cowden Syndrome 6
Thyroiditis, Hypothyroidism, Hyperthyroidism, Thyroid adenoma, Goiter OMIM:615109
Congenital Disorder Of Glycosylation, Type Ii
Hypothyroidism OMIM:607906
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Diabetes mellitus, Hypothyroidism ORPHA:391408
4H Leukodystrophy
Delayed puberty, Decreased response to growth hormone stimulation test, Hypogonadotropic hypogona... ORPHA:289494
Isolated Atp Synthase Deficiency
Hypothyroidism, Hypogonadism ORPHA:254913
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism OMIM:600430
Poems Syndrome
Abnormality of the endocrine system, Hypothyroidism, Primary adrenal insufficiency, Hypogonadism,... ORPHA:2905
Autoimmune Polyendocrine Syndrome, Type Ii
Hypothyroidism, Primary adrenal insufficiency, Exocrine pancreatic insufficiency, Hyperthyroidism... OMIM:269200
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating thyroid-stimulating hormo... ORPHA:424
Cystinosis
Delayed puberty, Type I diabetes mellitus, Hypothyroidism, Nephrogenic diabetes insipidus ORPHA:213
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Autosomal Dominant Optic Atrophy, Classic Form
Hypothyroidism, Diabetes mellitus, Hypogonadism ORPHA:98673
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Hypothyroidism, Type I diabetes mellitus OMIM:620430
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism OMIM:619750
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Delayed puberty, Type I diabetes mellitus, Hypothyroidism, Exocrine pancreatic insufficiency OMIM:615952
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism OMIM:618999
Glutaric Aciduria Iii
Goiter, Hyperthyroidism OMIM:231690
B4Galt1-Cdg
Hypothyroidism ORPHA:79332
Reni Syndrome
Hypothyroidism, Hypogonadism, Adrenal insufficiency OMIM:617575
Symptomatic Form Of Hfe-Related Hemochromatosis
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased s... ORPHA:465508
Immunodeficiency 102
Hypothyroidism OMIM:301082
Monosomy 18P
Hypothyroidism ORPHA:1598
Bone Marrow Failure Syndrome 6
Hypothyroidism OMIM:618849
Ddost-Cdg
Primary hypothyroidism ORPHA:300536
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism OMIM:618829
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
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Congenital hypothyroidism OMIM:601427
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Adrenal insufficiency, Hypogonadism, Abnormality of the hypothalamus-pituitary axis ORPHA:300298
Cowden Syndrome 1
Thyroiditis, Hypothyroidism, Hyperthyroidism, Thyroid adenoma, 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
Decreased circulating inhibin B concentration, Delayed puberty, Decreased response to growth horm... ORPHA:98754
Timothy Syndrome
Hypothyroidism OMIM:601005
Smith-Magenis Syndrome
Delayed puberty, Precocious puberty, Hypothyroidism ORPHA:819
Nephrotic Syndrome, Type 1
Hypothyroidism OMIM:256300
Intellectual Developmental Disorder, Autosomal Dominant 52
Hypothyroidism OMIM:617796
Wolcott-Rallison Syndrome
Central hypothyroidism, Hypothyroidism, Exocrine pancreatic insufficiency, Neonatal insulin-depen... ORPHA:1667
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased circulating inhibin B concentration, Delayed puberty, Decreased response to growth horm... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased circulating inhibin B concentration, Delayed puberty, Decreased response to growth horm... ORPHA:177904
Galloway-Mowat Syndrome 10
Congenital hypothyroidism OMIM:619609
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypothyroidism, Diabetes mellitus, Hyperthyroidism ORPHA:449291
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism OMIM:188580
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased circulating inhibin B concentration, Delayed puberty, Decreased response to growth horm... ORPHA:177901
19P13.12 Microdeletion Syndrome
Hypothyroidism, Precocious puberty ORPHA:254346
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Congenital hy... ORPHA:209905
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism ORPHA:505395
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypothyroidism, Hashimoto thyroiditis, Type I diabetes mellitus OMIM:613385
Seckel Syndrome 7
Central hypothyroidism OMIM:614851
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hypothyroidism, Hypogonadism, Diabetes mellitus, Adrenal insufficiency ORPHA:231222
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Hypothyroidism, Precocious puberty, Increased pineal volume, ... ORPHA:769
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hypothy... ORPHA:3464
Fanconi Anemia, Complementation Group I
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:609053
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hypothyroidism, Type I diabetes mellitus OMIM:304790
Lig4 Syndrome
Hypothyroidism, Type II diabetes mellitus OMIM:606593
Lig4 Syndrome
Hypothyroidism, Type II diabetes mellitus ORPHA:99812
Distal Xq28 Microduplication Syndrome
Hypothyroidism ORPHA:293939
Fragile X Tremor/Ataxia Syndrome
Hypothyroidism OMIM:300623
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism ORPHA:397590
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Delayed puberty, Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:619234
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypothyroidism ORPHA:85321
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hypothyroidism, Thyroiditis, Type I diabetes mellitus OMIM:606367
Fucosidosis
Hypothyroidism, Hyperhidrosis ORPHA:349
Prader-Willi Syndrome
Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t... ORPHA:739
Dominant Beta-Thalassemia
Delayed puberty, Hypoparathyroidism, Hypothyroidism, Hypopituitarism, Diabetes mellitus, Adrenal ... ORPHA:231226
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:618183
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism ORPHA:90065
Hydatidiform Mole
Hyperthyroidism ORPHA:99927
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Delayed puberty, Diabetes mellitus, Hypothyroidism, Exocrine pancreatic insufficiency ORPHA:456312
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:618922
Immunodeficiency, Common Variable, 8, With Autoimmunity
Hypothyroidism, Thyroiditis, Type I diabetes mellitus OMIM:614700
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Diabetes insipidus OMIM:225750
Cenani-Lenz Syndrome
Hypothyroidism ORPHA:3258
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:101800
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism OMIM:617713
Intrahepatic Cholestasis Of Pregnancy
Hypothyroidism, Abnormal pineal melatonin secretion ORPHA:69665
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Small pituitary gland, Central hypothyroidism, Absence of pubertal developmen... ORPHA:398079
Microform Holoprosencephaly
Hypothyroidism, Maternal diabetes, Panhypopituitarism ORPHA:280200
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hypothyroidism, Thyroiditis, Type I diabetes mellitus ORPHA:228426
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypothyroidism OMIM:226300
3-Methylglutaconic Aciduria Type 7
Hypothyroidism ORPHA:445038
Secondary Short Bowel Syndrome
Primary hypothyroidism, Central hypothyroidism ORPHA:95427
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypothyroidism OMIM:619147
Dysbetalipoproteinemia
Hypothyroidism, Diabetes mellitus, Acute pancreatitis ORPHA:412
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes insipidus, Hype... OMIM:203800
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypohidrosis, Hypothyroidism ORPHA:1812
Beta-Thalassemia Major
Delayed puberty, Hypoparathyroidism, Hypothyroidism, Hypopituitarism, Diabetes mellitus, Adrenal ... ORPHA:231214
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism ORPHA:2479
Koolen-De Vries Syndrome
Hypothyroidism ORPHA:96169
Oculoskeletodental Syndrome
Hypothyroidism OMIM:618440
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hypothyroidism OMIM:251900
Tbck-Related Intellectual Disability Syndrome
Hypothyroidism, Central adrenal insufficiency, Decreased response to growth hormone stimulation t... ORPHA:488632
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Premature pubarche, Premature thelarche OMIM:616878
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Diabetes mellitus OMIM:616541
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormality of the endocrine system, Thyroiditis, Hypothyroidism, Hyperthyroidism, Type I diabete... ORPHA:37042
Melas
Hypoparathyroidism, Hypothyroidism, Type II diabetes mellitus, Recurrent pancreatitis, Type I dia... ORPHA:550
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:96179
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Diabet... OMIM:610199
Dilated Cardiomyopathy With Ataxia
Hypothyroidism ORPHA:66634
Whipple Disease
Hypothyroidism ORPHA:3452
Allan-Herndon-Dudley Syndrome
Abnormality of thyroid physiology ORPHA:59
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Acute pancreatitis OMIM:619487
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Female hypogonadism, Hyperhidrosis, Hypogonadism, Central adrenal insufficiency,... ORPHA:91347
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism ORPHA:514
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism ORPHA:98808
Mosaic Variegated Aneuploidy Syndrome 2
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:614114
Mogs-Cdg
Hypothyroidism, Inappropriate antidiuretic hormone secretion ORPHA:79330
Ring Chromosome 12 Syndrome
Hypothyroidism ORPHA:1439
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Hypergonadotropic hypogonadism OMIM:212065
Mccune-Albright Syndrome
Pancreatitis, Increased serum testosterone level, Precocious puberty, Hyperthyroidism, Elevated c... ORPHA:562
T-Cell Immunodeficiency With Thymic Aplasia
Hypothyroidism, Thyroiditis, Aplasia of the thymus ORPHA:83471
Spondyloenchondrodysplasia
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:1855
Autosomal Dominant Progressive External Ophthalmoplegia
Hypothyroidism, Goiter, Diabetes mellitus, Hyperthyroidism ORPHA:254892
Monosomy 18Q
Hypothyroidism, Secondary growth hormone deficiency ORPHA:1600
Alexander Disease
Hypothyroidism, Diabetes mellitus, Hyperhidrosis, Precocious puberty ORPHA:58
Ohdo Syndrome, Sbbys Variant
Hypothyroidism OMIM:603736
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism OMIM:618005
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism OMIM:618569
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Small pituitary gland, Central hypothyroidism, Absence of pubertal developmen... ORPHA:398069
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Diabetes mellitus, Hypothyroidism, Exocrine pancreatic insufficiency OMIM:616263
Trichohepatoneurodevelopmental Syndrome
Hypothyroidism, Exocrine pancreatic insufficiency, Recurrent pancreatitis OMIM:618268
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypothyroidism, Diabetes mellitus, Abnormality of endocrine pancreas physiology, Abnormality of e... ORPHA:93111
Pseudoxanthoma Elasticum
Hypothyroidism ORPHA:758
Familial Adenomatous Polyposis
Pancreatitis, Thyroiditis, Neoplasm of the adrenal gland, Papillary thyroid carcinoma, Hypothyroi... ORPHA:733
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Congenital hypothyroidism ORPHA:2519
Isolated Biliary Atresia
Hypopituitarism, Hypothyroidism ORPHA:30391
Martin-Probst Syndrome
Hypothyroidism OMIM:300519
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Central hypothyroidism OMIM:300998
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypothyroidism ORPHA:453499
Neuhauser Syndrome
Primary hypothyroidism OMIM:249310
Immunodeficiency 31C
Delayed puberty, Diabetes mellitus, Hypothyroidism OMIM:614162
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism OMIM:607944
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Hypothyroidism, Increased circulating gonadotropin level, Streak ovary, Decrease... ORPHA:1772
Interstitial Lung And Liver Disease
Hypothyroidism OMIM:615486
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism OMIM:613673
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid agenesis, Thyroid hypoplasia, Hypothyroidism, Thyroid dysgenesis, Ectopic thyroid ORPHA:3047
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Fragile X-Associated Tremor/Ataxia Syndrome
Hypothyroidism ORPHA:93256
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Compensated hypothyroidism ORPHA:247691
Lymphatic Malformation 6
Hypothyroidism OMIM:616843
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hypoparathyroidism, Hypothyroidism, Exocri... ORPHA:699
Tuberous Sclerosis 1
Hypothyroidism, Precocious puberty OMIM:191100
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Palmoplantar hyperhidrosis, Congenital hypothyroidism OMIM:617527
Myasthenia Gravis
Hashimoto thyroiditis, Primary adrenal insufficiency, Hyperthyroidism, Abnormal thymus morphology ORPHA:589
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Pancreatitis ORPHA:1830
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Compensated hypothyroidism ORPHA:480864
Neurooculorenal Syndrome
Central hypothyroidism, Ectopic posterior pituitary, Decreased circulating cortisol level, Decrea... OMIM:620305
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
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Thyroiditis, Hypothyroidism, Pancreatitis ORPHA:79259
Peripartum Cardiomyopathy
Abnormality of thyroid physiology, Diabetes mellitus ORPHA:563
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Hypothyroidism, Precocious puberty, Primar... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Precocious puberty, Primar... ORPHA:363958
Abetalipoproteinemia
Hypothyroidism ORPHA:14
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos... ORPHA:79102
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
Hallermann-Streiff Syndrome
Hypothyroidism ORPHA:2108
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Hypothyroidism, Congenital hypothyroidism, Thyroid hypoplasia, Aplasia of the thymus OMIM:620186
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Hypothyroidism, Exocrine pancreatic insufficiency OMIM:620005
Mosaic Variegated Aneuploidy Syndrome
Hypothyroidism ORPHA:1052
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Precocious puberty in females, Abnormality of the endocrine system, Hyperpitui... ORPHA:249
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Abnormality of the endocrine system, Prema... ORPHA:268261
Rothmund-Thomson Syndrome Type 1
Hypothyroidism, Hypogonadism ORPHA:221008
Tuberous Sclerosis 2
Hypothyroidism, Precocious puberty OMIM:613254
Syndromic Diarrhea
Hypothyroidism, Hypoplasia of the thymus ORPHA:84064
Bilateral Polymicrogyria
Central hypothyroidism ORPHA:268940
22Q11.2 Deletion Syndrome
Hypothyroidism, Hypoplasia of the thymus, Hypoparathyroidism, Hyperthyroidism ORPHA:567
White-Kernohan Syndrome
Hypothyroidism OMIM:619426
Cutis Marmorata Telangiectatica Congenita
Hypothyroidism ORPHA:1556
Cerebrotendinous Xanthomatosis
Hypothyroidism ORPHA:909
Stüve-Wiedemann Syndrome
Hypohidrosis, Hyperhidrosis, Hypothyroidism, Ectopic thyroid ORPHA:3206
Aicardi-Goutieres Syndrome 7
Hypothyroidism OMIM:615846
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Delayed puberty, Abnormality of the endocrine system, Primary hypothyroidism, Thyroiditis, Type I... ORPHA:391487
Aicardi-Goutières Syndrome
Hypothyroidism, Diabetes mellitus ORPHA:51
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:444077
Juvenile Nephropathic Cystinosis
Hypothyroidism ORPHA:411634
Leprechaunism
Increased circulating renin level, Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism ORPHA:508
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Digeorge Syndrome
Hypoplasia of the thymus, Hypothyroidism, Parathyroid hypoplasia, Abnormal thymus morphology, Dec... OMIM:188400
Alkaptonuria
Hypothyroidism, Prostatitis ORPHA:56
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormality of thyroid physiology OMIM:300968
Intellectual Developmental Disorder, Autosomal Dominant 42
Congenital hypothyroidism OMIM:616973
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Congenital hypothyroidism OMIM:271510
Down Syndrome
Hypothyroidism OMIM:190685
Steinert Myotonic Dystrophy
Abnormality of thyroid physiology, Hyperinsulinemia, Decreased response to growth hormone stimula... ORPHA:273
Gabriele-De Vries Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:506358
Beckwith-Wiedemann Syndrome
Pseudohypoparathyroidism, Hypothyroidism, Exocrine pancreatic insufficiency, Adrenocortical cytom... ORPHA:116
Bardet-Biedl Syndrome
Abnormality of the endocrine system, Hypoplasia of the ovary, Hypothyroidism, Type II diabetes me... ORPHA:110
Cystinosis, Nephropathic
Delayed puberty, Male hypogonadism, Primary hypothyroidism, Hypohidrosis, Exocrine pancreatic ins... OMIM:219800
1P36 Deletion Syndrome
Hypothyroidism, Hypogonadism ORPHA:1606
Microphthalmia, Syndromic 2
Hypothyroidism, Adrenal insufficiency OMIM:300166
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the endocrine system, Hypothyroidism, Precocious puberty, Abnormality of the anter... ORPHA:438213
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnormality of the end... ORPHA:93924
Sarcoidosis
Abnormality of the adrenal glands, Diabetes insipidus, Parotitis, Hypothyroidism, Hyperthyroidism ORPHA:797
Coffin-Siris Syndrome 12
Hypothyroidism OMIM:619325
Williams Syndrome
Hypothyroidism, Type II diabetes mellitus, Precocious puberty, Hypogonadotropic hypogonadism ORPHA:904
Chromosome 1P36 Deletion Syndrome, Distal
Hypothyroidism, Congenital hypothyroidism OMIM:607872
Charge Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoparathyroidism, Hypot... OMIM:214800
Microphthalmia, Syndromic 6
Anterior hypopituitarism, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitary axis, Hyp... OMIM:607932
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology ORPHA:411629
Schinzel-Giedion Syndrome
Central hypothyroidism, Streak ovary ORPHA:798
Sponastrime Dysplasia
Hypothyroidism, Precocious puberty ORPHA:93357
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficiency, Anterior pituita... ORPHA:2255
Williams-Beuren Syndrome
Hypothyroidism, Early onset of sexual maturation, Diabetes mellitus OMIM:194050
Viss Syndrome
Hypothyroidism OMIM:619472
Johanson-Blizzard Syndrome
Primary hypothyroidism, Diabetes mellitus, Hypothyroidism, Exocrine pancreatic insufficiency OMIM:243800
Ring Chromosome 13 Syndrome
Primary hypothyroidism ORPHA:96176
Primrose Syndrome
Hypothyroidism, Diabetes mellitus, Delayed puberty, Hypergonadotropic hypogonadism OMIM:259050
Doors Syndrome
Adrenal hyperplasia, Congenital hypothyroidism ORPHA:79500
Genitopatellar Syndrome
Hypothyroidism OMIM:606170
Townes-Brocks Syndrome
Delayed puberty, Hypothyroidism ORPHA:857
Peters Plus Syndrome
Anterior hypopituitarism, Congenital hypothyroidism ORPHA:709
Kabuki Syndrome 1
Congenital hypothyroidism, Premature thelarche OMIM:147920
Townes-Brocks Syndrome 1
Hypothyroidism OMIM:107480
Sotos Syndrome
Hypothyroidism ORPHA:821
Alström Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... 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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