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Gene: Rhobtb1 MGI:1916538

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Gene Summary

Name:
Rho-related BTB domain containing 1
Synonyms:
1700008H16Rik,  3110048G13Rik

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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
enlarged thyroid gland Rhobtb1em2(IMPC)Ccpcz HOM Early adult 0.00
abnormal thyroid gland morphology Rhobtb1em2(IMPC)Ccpcz HOM Early adult 0.00
increased Ly6C-positive NK T cell number Rhobtb1em2(IMPC)Ccpcz HOM Early adult 1.09×10-06

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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

32 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Rhobtb1 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 Rhobtb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274700
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter, Decreased circu... OMIM:274500
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Impaired sensitivity to thyroid hormone, Increased circulating fre... OMIM:188570
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Hypothyroidism, Thyroid h... OMIM:275200
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Thyroid Cancer, Nonmedullary, 4
Goiter, Ovarian neoplasm, Papillary thyroid carcinoma OMIM:616534
Blepharochalasis And Double Lip
Goiter OMIM:109900
Pendred Syndrome
Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274600
Rhabdomyosarcoma, Embryonal, 2
Goiter, Ovarian thecoma, Thyroid nodule, Multinodular goiter OMIM:180295
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma ORPHA:319487
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Papillary thyroid carcinoma ORPHA:97290
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid... OMIM:613239
Thyrocerebroretinal Syndrome
Goiter, Thrombocytopenia OMIM:274240
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Bangstad Syndrome
Goiter, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Pancytopenia OMIM:210740
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia ORPHA:3327
Glutaric Aciduria Iii
Goiter, Hyperthyroidism OMIM:231690
Thyroid Lymphoma
Hypothyroidism, Hashimoto thyroiditis, Goiter, Hyperthyroidism ORPHA:97285
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Goite... OMIM:275000
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla... OMIM:225250
Familial Gestational Hyperthyroidism
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating thyroid-stimulating hormo... ORPHA:99819
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Pendred Syndrome
Hypothyroidism, Goiter, Thyroid carcinoma, Hyperparathyroidism ORPHA:705
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter ORPHA:83601
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism OMIM:188580
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Thyroi... ORPHA:95716
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating thyroid-stimulating hormo... ORPHA:424
Igg4-Related Thyroid Disease
Euthyroid goiter, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse goiter, Abnormal pituita... ORPHA:64744
Hyperthyroidism, Nonautoimmune
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... OMIM:609152
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Neoplasm of the adrenal cortex, Pituitary ad... ORPHA:163634
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Nodular goiter ORPHA:142
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasia, Abnormal radi... ORPHA:226316
Medullary Thyroid Carcinoma
Pheochromocytoma, Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Nod... ORPHA:1332
Cowden Syndrome 7
Ductal carcinoma in situ, Goiter, Papillary thyroid carcinoma, Hashimoto thyroiditis OMIM:616858
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Congenital hypothyroidism... ORPHA:226313
Cowden Syndrome 5
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, Hydrocele te... OMIM:615108
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Increased circulating free T3, Neutropenia in presence of... ORPHA:525731
Cowden Syndrome 1
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Lymphopenia, Goiter,... OMIM:158350
Cowden Syndrome 6
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, Hydrocele te... OMIM:615109
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla... OMIM:218700
Multiple Endocrine Neoplasia, Type Iia
Pheochromocytoma, Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Para... OMIM:171400
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Pituitary hypothyroidism, Increased pituitary glycop... ORPHA:90674
Mccune-Albright Syndrome
Increased serum testosterone level, Pancytopenia, Abnormal testis morphology, Precocious puberty,... ORPHA:562
Carney Complex, Type 1
Thyroid carcinoma, Pheochromocytoma, Pituitary adenoma, Elevated circulating growth hormone conce... OMIM:160980
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Reduce... ORPHA:99832
Familial Multinodular Goiter
Thyroid carcinoma, Ovarian neoplasm, Testicular seminoma, Multinodular goiter, Sertoli cell neoplasm ORPHA:276399
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone ... ORPHA:652
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Elevated circulating thyroid-stimulating hormone concentration, Enlarged pituita... ORPHA:91347
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s... ORPHA:90673
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Type I diabetes mellitus, Polycystic ovaries, Premature thelarche ORPHA:371428
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Congenital hy... ORPHA:209905
Multiple Endocrine Neoplasia, Type Iib
Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasia, Nodular... OMIM:162300
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Abnormality of th... ORPHA:95712
Familial Adenomatous Polyposis
Thyroiditis, Neoplasm of the adrenal gland, Papillary thyroid carcinoma, Hypothyroidism, Pituitar... ORPHA:733
Autosomal Dominant Progressive External Ophthalmoplegia
Hypothyroidism, Goiter, Diabetes mellitus, Hyperthyroidism ORPHA:254892
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Cowden Syndrome
Neoplasm of the thyroid gland, Adenoma sebaceum, Enlarged polycystic ovaries, Follicular thyroid ... ORPHA:201
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid agenesis, Thyroid hypoplasia, Hypothyroidism, Cryptorchidism, Thyroid dysgenesis, Ectopic... ORPHA:3047
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Multinodular goiter OMIM:620189
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Panhypopituitarism, De... OMIM:146510
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Thyroid C cell hyperplasia, Pri... ORPHA:653
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia OMIM:300952
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Thyroiditis, Abnormality of the sub... ORPHA:79078
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes insipidus, Hype... OMIM:203800
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... ORPHA:1359
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Stüve-Wiedemann Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:3206
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Adrenal hypoplasia, Thyroid hypoplasia, Abnormality of the hypothalamus-pituitary... ORPHA:2166
Treacher-Collins Syndrome
Abnormality of the adrenal glands, Cryptorchidism, Thyroid hypoplasia, Hypoplasia of the thymus ORPHA:861
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Congenital hypothyroidism, Hypothyroidism... OMIM:620186
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Adrenal hypoplasia, Thyroid hypoplasia OMIM:308050
Pallister-Hall Syndrome
Pituitary hypothyroidism, Adrenal hypoplasia, Thyroid hypoplasia, Panhypopituitarism, Abnormal pr... ORPHA:672
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Small pituitary gland, Thyroid hypoplasia,... OMIM:619503

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 Rhobtb1

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 Rhobtb1.

No publications found that use IMPC mice or data for Rhobtb1.

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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
Rhobtb1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Rhobtb1em2(IMPC)Ccpcz Indel Mice
Rhobtb1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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