Gene Summary

Name:
BTB (POZ) domain containing 3
Synonyms:
N/A

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal thyroid gland morphology Btbd3tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal vertebrae morphology Btbd3tm1b(EUCOMM)Hmgu HOM Early adult 2.17×10-05
abnormal vertebral arch morphology Btbd3tm1b(EUCOMM)Hmgu HOM   Early adult 1.56×10-05
increased CD8-positive, CD25-positive alpha-beta T cell number Btbd3tm1b(EUCOMM)Hmgu HOM Early adult 5.54×10-06
decreased body weight Btbd3tm1b(EUCOMM)Hmgu HOM   Early adult 8.27×10-06
enlarged thyroid gland Btbd3tm1b(EUCOMM)Hmgu HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 0.0% (0 of 5)
Aorta  Section images heterozygote 40% (2 of 5)
Bone  Section images heterozygote 40% (2 of 5)
Brain  Section images heterozygote 60% (3 of 5)
Brainstem  Section images heterozygote 40% (2 of 5)
Brown adipose tissue  Section images heterozygote 0.0% (0 of 5)
Cartilage tissue  Section images heterozygote 40% (2 of 5)
Cecum  Section images heterozygote Not available
Cerebellum  Section images heterozygote 40% (2 of 5)
Cerebral cortex  Section images heterozygote 40% (2 of 5)
Chest bone  Section images heterozygote 40% (2 of 5)
Colon  Section images heterozygote Not available
Cranium  Section images heterozygote 0.0% (0 of 5)
Diaphragm  Section images heterozygote 40% (2 of 5)
Duodenum  Section images heterozygote 40% (2 of 5)
Esophagus  Section images heterozygote 40% (2 of 5)
Eye  Section images heterozygote 40% (2 of 5)
Gall bladder  Section images heterozygote 0.0% (0 of 5)
Harderian gland  Section images heterozygote 20% (1 of 5)
Heart  Section images heterozygote 40% (2 of 5)
Hindlimb  Section images heterozygote 40% (2 of 5)
Hippocampus  Section images heterozygote 40% (2 of 5)
Hypothalamus  Section images heterozygote 40% (2 of 5)
Ileum  Section images heterozygote Not available
Jejunum  Section images heterozygote Not available
Kidney  Section images heterozygote 40% (2 of 5)
Large intestine  Section images heterozygote 40% (2 of 5)
Liver  Section images heterozygote 0.0% (0 of 5)
Lower urinary tract  Section images heterozygote 40% (2 of 5)
Lung  Section images heterozygote 0.0% (0 of 5)
Lymph node  Section images heterozygote 0.0% (0 of 5)
Mammary gland  Section images heterozygote 0.0% (0 of 5)
Olfactory lobe  Section images heterozygote 40% (2 of 5)
Oral epithelium  Section images heterozygote 40% (2 of 5)
Ovary  Section images heterozygote 20% (1 of 5)
Oviduct  Section images heterozygote 20% (1 of 5)
Pancreas  Section images heterozygote 0.0% (0 of 5)
Parathyroid gland  Section images heterozygote 40% (2 of 5)
Penis  Section images heterozygote 20% (1 of 5)
Peripheral nervous system  Section images heterozygote 40% (2 of 5)
Pituitary gland  Section images heterozygote 40% (2 of 5)
Prostate gland  Section images heterozygote 20% (1 of 5)
Quadriceps  Section images heterozygote 40% (2 of 5)
Skeletal muscle  Section images heterozygote 40% (2 of 5)
Skin  Section images heterozygote 40% (2 of 5)
Small intestine  Section images heterozygote 40% (2 of 5)
Spinal cord  Section images heterozygote 0.0% (0 of 5)
Spleen  Section images heterozygote 0.0% (0 of 5)
Stomach  Section images heterozygote 40% (2 of 5)
Striatum  Section images heterozygote 40% (2 of 5)
Submandibular gland  Section images heterozygote 40% (2 of 5)
Testis  Section images heterozygote 20% (1 of 5)
Thymus  Section images heterozygote 0.0% (0 of 5)
Thyroid gland  Section images heterozygote 40% (2 of 5)
Tongue  Section images heterozygote 40% (2 of 5)
Trachea  Section images heterozygote 40% (2 of 5)
Urinary bladder  Section images heterozygote 40% (2 of 5)
Uterus  Section images heterozygote 20% (1 of 5)
Vagina  Section images heterozygote 20% (1 of 5)
Vascular system  Section images heterozygote 40% (2 of 5)
White adipose tissue  Section images heterozygote 0.0% (0 of 5)
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote Not available
Epididymis N/A heterozygote Not available
Gonadal fat pad N/A heterozygote Not available
Main olfactory bulb N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote Not available
Midbrain N/A heterozygote Not available
Parotid gland N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Sciatic nerve N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Sublingual gland N/A heterozygote Not available
Thalamus N/A heterozygote Not available
Trigeminal V nerve N/A heterozygote Not available
Vas deferens N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Ambiguous
Central nervous system ganglion N/A heterozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Ear N/A heterozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote Ambiguous
Eye N/A heterozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Forearm N/A heterozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Head N/A heterozygote Ambiguous
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Humerus pre-cartilage condensation N/A heterozygote Ambiguous
Inner ear N/A heterozygote Ambiguous
Liver N/A heterozygote Ambiguous
Lower leg N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Nose N/A heterozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Radius-ulna pre-cartilage condensation N/A heterozygote Ambiguous
Skeleton N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote Ambiguous
Upper arm N/A heterozygote Ambiguous
Upper leg N/A heterozygote Ambiguous
Vibrissa N/A heterozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.69% (4 of 577)
aorta 0.17% (1 of 582)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.86% (5 of 583)
brainstem 0.35% (2 of 578)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cecum 5.71% (21 of 368)
cerebellum 0.52% (3 of 582)
cerebral cortex 0.34% (2 of 581)
chest bone Unavailable
colon 16.06% (22 of 137)
cranium
diaphragm 0.0%
duodenum 3.73% (5 of 134)
epididymis 13.89% (20 of 144)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.34% (2 of 581)
hindlimb 0.0%
hippocampus 0.34% (2 of 585)
hypothalamus 0.34% (2 of 583)
ileum 13.77% (19 of 138)
jejunum 8.89% (12 of 135)
kidney 4.45% (26 of 584)
large intestine 5.34% (31 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 579)
lung 0.35% (2 of 573)
lymph node 0.18% (1 of 570)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.35% (2 of 574)
oral epithelium 0.0%
ovary 0.17% (1 of 577)
oviduct 0.0%
pancreas 0.86% (5 of 581)
parathyroid gland 0.18% (1 of 561)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 579)
peyers patch 0.0%
pituitary gland 0.17% (1 of 572)
prostate gland 2.08% (12 of 577)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 580)
small intestine 5.51% (32 of 581)
spinal cord 0.35% (2 of 578)
spleen 0.52% (3 of 580)
stomach 3.79% (22 of 580)
stomach pyloric region 0.0%
striatum 0.52% (3 of 578)
sublingual gland 0.0%
submandibular gland 1.43% (2 of 140)
testis 0.86% (5 of 581)
thalamus 0.0%
thymus 0.17% (1 of 579)
thyroid gland 2.94% (17 of 579)
tongue 3.65% (5 of 137)
trachea 0.52% (3 of 579)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 579)
vagina 0.0%
vas deferens 4.68% (18 of 385)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
liver 0.2% (1 of 505)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
vibrissa 1.35% (1 of 74)

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

30 Images

X-ray

XRay Images Hind Leg and Hip

30 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

Adult LacZ

LacZ Images Section

120 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Forepaw

15 Images

Human diseases caused by Btbd3 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 Btbd3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thyroid Cancer, Nonmedullary, 1
Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma OMIM:188550
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274700
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 OMIM:274500
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Thyroid Cancer, Nonmedullary, 4
Goiter, Non-medullary thyroid carcinoma OMIM:616534
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Increased circulating free T3, Impaired sensitivity to thyroid hormone OMIM:188570
Fetal Iodine Deficiency Disorder
Congenital hypothyroidism, Congenital goiter OMIM:228355
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Primary hypothyroidism, Goiter OMIM:225040
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Pendred Syndrome
Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274600
Bangstad Syndrome
Small for gestational age, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Pa... OMIM:210740
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... OMIM:274300
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Glutaric Aciduria Iii
Failure to thrive, Goiter, Hyperthyroidism OMIM:231690
Hyperthyroidism, Nonautoimmune
Goiter, Thyroid hyperplasia, Hyperthyroidism, Small for gestational age OMIM:609152
Blepharochalasis And Double Lip
Goiter OMIM:109900
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Multinodular goiter, Thyroid nodule, Goiter OMIM:180295
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Goiter, Weight loss, Hyperthyroidism OMIM:613239
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Goiter, Papillary thyroid carcinoma, Nodular goiter ORPHA:319487
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Weigh... OMIM:275000
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Activating thyroid-stimulating hormone receptor defec... ORPHA:424
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Weight loss, Hyperthyroidism OMIM:188580
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Goiter, Papillary thyroid carcinoma ORPHA:97290
Maffucci Syndrome
Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Neoplasm of the adrenal cortex, Scolios... ORPHA:163634
Familial Gestational Hyperthyroidism
Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Weight loss, Thyroid hyp... ORPHA:99819
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Thyrocerebroretinal Syndrome
Goiter, Thrombocytopenia OMIM:274240
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Myxedema
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Goiter OMIM:255900
Thyrocerebrorenal Syndrome
Thrombocytopenia, Euthyroid goiter ORPHA:3327
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:95716
Permanent Congenital Hypothyroidism
Thyroid dysgenesis, Goiter, Hypothyroidism ORPHA:226292
Primary Basilar Invagination
Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine ORPHA:2285
Thyroid Lymphoma
Hypothyroidism, Goiter, Hashimoto thyroiditis, Hyperthyroidism ORPHA:97285
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Goiter, Thrombocytopenia ORPHA:83601
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Anaplastic Thyroid Carcinoma
Nodular goiter, Goiter, Weight loss, Anaplastic thyroid carcinoma ORPHA:142
Medullary Thyroid Carcinoma
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Elevated calcitonin, ... ORPHA:1332
Pendred Syndrome
Hypothyroidism, Hyperparathyroidism, Goiter, Thyroid carcinoma ORPHA:705
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... ORPHA:64744
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia OMIM:225250
Cowden Syndrome 5
Hydrocele testis, Kyphosis, Hyperthyroidism, Ovarian cyst, Scoliosis, Hypothyroidism, Goiter, Thy... OMIM:615108
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Scolios... ORPHA:457059
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestational age, Ele... ORPHA:226313
Cowden Syndrome 6
Hydrocele testis, Kyphosis, Hyperthyroidism, Ovarian cyst, Scoliosis, Hypothyroidism, Goiter, Thy... OMIM:615109
Cowden Syndrome 1
Hydrocele testis, Kyphosis, Lymphopenia, Hyperthyroidism, Ovarian cyst, Scoliosis, Hypothyroidism... OMIM:158350
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... OMIM:275200
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:226316
Pediatric-Onset Graves Disease
Failure to thrive, Graves disease, Neutropenia in presence of anti-neutropil antibodies, Splenome... ORPHA:525731
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Central hypothyroidism OMIM:301035
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Medullary thyroid carcinoma, Pheochromocytoma, Scoliosis, Hyperlordosis, Elevated calci... OMIM:162300
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... ORPHA:90674
Mccune-Albright Syndrome
Increased serum testosterone level, Precocious puberty, Abnormal endocrine physiology, Abnormalit... ORPHA:562
Cowden Syndrome 7
Goiter, Hashimoto thyroiditis, Papillary thyroid carcinoma, Ductal carcinoma in situ OMIM:616858
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Eunuchoid habitus, Hemivertebrae, Sh... ORPHA:2234
Congenital Hypothyroidism
Abnormality of the thyroid gland, Thyroid dysgenesis, Anterior hypopituitarism, Hypothyroidism, H... ORPHA:442
Hypothyroidism, Congenital, Nongoitrous, 2
Congenital hypothyroidism, Ectopic thyroid, Hypothyroidism, Elevated circulating thyroid-stimulat... OMIM:218700
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Decreased ci... ORPHA:99832
Multiple Endocrine Neoplasia, Type Iia
Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Pheochrom... OMIM:171400
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Tsh-Secreting Pituitary Adenoma
Central adrenal insufficiency, Increased circulating prolactin concentration, Euthyroid hyperthyr... ORPHA:91347
Alstrom Syndrome
Kyphosis, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotro... OMIM:203800
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Premature thelarche, Abnormal form of the vertebral bodies, Type I diabetes melli... ORPHA:371428
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, ... ORPHA:652
Carney Complex, Type 1
Pituitary adenoma, Elevated circulating growth hormone concentration, Thyroid carcinoma, Pheochro... OMIM:160980
Cowden Syndrome
Kyphosis, Failure to thrive, Abnormality of the thyroid gland, Scoliosis, Follicular thyroid carc... ORPHA:201
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Failure to thrive, Abnormality of the thyroid gland, Thyroid dysgenesis, Comp... ORPHA:209905
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Testicular seminoma, Multinodular goiter ORPHA:276399
Autosomal Dominant Progressive External Ophthalmoplegia
Failure to thrive, Hyperthyroidism, Hypothyroidism, Diabetes mellitus, Goiter ORPHA:254892
Pten Hamartoma Tumor Syndrome
Multinodular goiter, Thyroid carcinoma, Thyroid adenoma ORPHA:306498
Hypothyroidism Due To Tsh Receptor Mutations
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Impaired sensitivity... ORPHA:90673
Multiple Endocrine Neoplasia Type 2
Medullary thyroid carcinoma, Kyphoscoliosis, Parathyroid adenoma, Elevated circulating parathyroi... ORPHA:653
Familial Adenomatous Polyposis
Thyroiditis, Pituitary adenoma, Abnormality of the thyroid gland, Neoplasm of the adrenal gland, ... ORPHA:733
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Decreased circulating ... OMIM:146510
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Failure to thrive, Thyroid dysgenesis, Ectopic thyroid, Hypothyroidism, Thyroid hypoplasia, Thyro... ORPHA:3047
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Thyroid Ectopia
Hypothyroidism, Abnormality of the thyroid gland, Ectopic thyroid ORPHA:95712
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased re... ORPHA:226307
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlarged lacrimal gl... ORPHA:79078
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Carney Complex
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:1359
Stüve-Wiedemann Syndrome
Hypothyroidism, Scoliosis, Ectopic thyroid, Sacral dimple ORPHA:3206
Phace Association
Congenital hypothyroidism, Lingual thyroid OMIM:606519
Treacher-Collins Syndrome
Failure to thrive, Hypoplasia of the thymus, Abnormality of the vertebral column, Abnormality of ... ORPHA:861
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Adrenal hypoplasia, Vertebral hypoplasia, Scoliosis, Thyroid hypoplasia OMIM:308050
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Congenital hypothyroidism, Thyroid hypoplasia ORPHA:521445
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Myhre Syndrome
Small for gestational age, Platyspondyly, Enlarged vertebral pedicles, Short neck, Obesity, Crypt... OMIM:139210
Holoprosencephaly-Postaxial Polydactyly Syndrome
Adrenal hypoplasia, Cryptorchidism, Thyroid hypoplasia, Abnormality of the hypothalamus-pituitary... ORPHA:2166
Pallister-Hall Syndrome
Adrenocorticotropic hormone deficiency, Precocious puberty, Abnormal prolactin level, Central adr... ORPHA:672
Osteogenesis Imperfecta
Kyphosis, Small for gestational age, Enlarged vertebral pedicles, Biconcave vertebral bodies, Sco... ORPHA:666
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Failure to thrive, Decreased response to growth hormone stimulation test, Small pituitary gland, ... 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 Btbd3

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 Btbd3.

No publications found that use IMPC mice or data for Btbd3.

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MGI Allele Allele Type Produced
Btbd3tm1c(EUCOMM)Hmgu Wild type floxed exon (post-Flp) Mice
Btbd3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Btbd3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Btbd3tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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