Gene Summary

Name:
adhesion G protein-coupled receptor A1
Synonyms:
2900059M17Rik,  D7Ertd680e,  Gpr123

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
increased bone mineral content Adgra1tm1b(EUCOMM)Hmgu HOM Early adult 8.45×10-05
preweaning lethality, incomplete penetrance Adgra1em1(IMPC)J HOM   Early adult 0.00
improved glucose tolerance Adgra1tm1b(EUCOMM)Hmgu HOM Early adult 7.79×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Submandibular gland N/A heterozygote Ambiguous
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 100% (2 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Ambiguous
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 50% (1 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

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 Forepaw

20 Images

X-ray

XRay Images Whole Body Dorso Ventral

20 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

20 Images

Eye Morphology

Images Ophthalmoscopy

12 Images

X-ray

XRay Images Skull Lateral Orientation

20 Images

Adult LacZ

LacZ Images Section

18 Images

Sleep Wake

Wake state (bmp file)

6 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

14 Images

Electroretinography 2

Rod and cone PDF

7 Images

Human diseases caused by Adgra1 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 Adgra1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Thyroid Hormone Metabolism, Abnormal, 3
Abnormal circulating free T3 concentration, Increased circulating free T3, Euthyroid hyperthyroxi... OMIM:620198
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Increased circulating T4 concentration, Weight loss, Increased circulating free T4 concen... OMIM:613239
Thyroid Hemiagenesis
Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ... ORPHA:95719
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:424
Thyroid Hormone Resistance, Selective Pituitary
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... OMIM:145650
Glutaric Aciduria Iii
Hyperthyroidism, Failure to thrive, Goiter OMIM:231690
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Weight loss, Increased circulating free T4... OMIM:275000
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Goiter OMIM:188580
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:99819
Hyperthyroxinemia, Familial Dysalbuminemic
Abnormal thyroid-stimulating hormone level, Increased circulating free T4 concentration, Euthyroi... OMIM:615999
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating T4 concentration OMIM:603373
Cowden Syndrome 5
Thyroid adenoma, Subcutaneous lipoma, Goiter, Hypothyroidism, Hyperthyroidism, Thyroiditis OMIM:615108
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Transie... ORPHA:99886
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Cowden Syndrome 6
Thyroid adenoma, Subcutaneous lipoma, Goiter, Hypothyroidism, Hyperthyroidism, Thyroiditis OMIM:615109
Thyroid Lymphoma
Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Goiter ORPHA:97285
Hyperthyroidism, Nonautoimmune
Small for gestational age, Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased ... OMIM:609152
Autoimmune Polyendocrinopathy Type 2
Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary... ORPHA:3143
Cowden Syndrome 1
Thyroid adenoma, Subcutaneous lipoma, Goiter, Hypothyroidism, Hyperthyroidism, Thyroiditis OMIM:158350
Myopathy, Mitochondrial, And Ataxia
Multiple lipomas, Hyperthyroidism, Increased circulating prolactin concentration OMIM:617675
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Graves disease, Obesity, Weight loss, Hyperhidrosis, Hyperthyroidism,... ORPHA:79102
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating free T3, Hy... OMIM:609698
Myasthenia Gravis
Glycosuria, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Abnormal thymu... ORPHA:589
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Lipoma, Hyperthyroidism, Increased circulating prolactin concentration ORPHA:502423
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Pediatric-Onset Graves Disease
Graves disease, Failure to thrive, Goiter, Puberty and gonadal disorders, Increased circulating f... ORPHA:525731
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidi... OMIM:262700
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology, Inguinal hernia OMIM:615542
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat... ORPHA:91347
Subcorneal Pustular Dermatosis
Hypothyroidism, Hyperthyroidism ORPHA:48377
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Hashimoto thyroiditis, Hypothyroidism, Thyrotoxicosis w... ORPHA:64744
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypothyroidism, Diabetes mellitus, Hyperthyroidism ORPHA:449291
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotropin deficient adrena... ORPHA:199299
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Type I diabetes mellitus, Failure to thrive in infancy, Cachexia, Hypothyroidism, Hyperthyroidism... ORPHA:37042
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Mccune-Albright Syndrome
Precocious puberty, Increased circulating cortisol level, Increased circulating prolactin concent... ORPHA:562
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... OMIM:274300
Down Syndrome
Umbilical hernia, Obesity, Type II diabetes mellitus, Delayed puberty, Hyperthyroidism ORPHA:870
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II diabetes melli... OMIM:269200
Hydatidiform Mole
Hyperthyroidism ORPHA:99927
Autosomal Dominant Progressive External Ophthalmoplegia
Failure to thrive, Goiter, Glucose intolerance, Hypothyroidism, Hyperthyroidism, Diabetes mellitus ORPHA:254892
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Wolfram-Like Syndrome
Male hypogonadism, Glucose intolerance, Central diabetes insipidus, Hypothyroidism, Delayed puber... ORPHA:411590
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Omphalocele, Increased b... OMIM:614450
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Hyperpitu... ORPHA:249
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Hyperthyroidism OMIM:170390
Tbck-Related Intellectual Disability Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Central adrenal insufficie... ORPHA:488632
Thyroid Dyshormonogenesis 6
Congenital hypothyroidism, Hypothyroidism OMIM:607200
Acrocardiofacial Syndrome
Hyperthyroidism, Camptodactyly of finger ORPHA:2008
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Pituitary Dwarfism With Large Sella Turcica
Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:262710
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism OMIM:300123
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Umbilical hernia, Decreased circulating T4 concentration, Abnormality of thyroid physiology, Redu... ORPHA:95715
22Q11.2 Deletion Syndrome
Failure to thrive, Umbilical hernia, Abnormal dental enamel morphology, Obesity, Inguinal hernia,... ORPHA:567
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... OMIM:300888
Wiedemann-Rautenstrauch Syndrome
Increased subcutaneous truncal adipose tissue, Failure to thrive, Increased circulating prolactin... ORPHA:3455
Hypothyroidism, Congenital, Nongoitrous, 4
Umbilical hernia, Decreased circulating T4 concentration, Hypothyroidism, Omphalocele, Decreased ... OMIM:275100
Livedoid Vasculopathy
Atrophic scars, Graves disease, Diabetes mellitus ORPHA:542643
Gitelman Syndrome
Insulin resistance, Type I diabetes mellitus, Chondrocalcinosis, Graves disease, Failure to thriv... ORPHA:358
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Small for gestational age,... ORPHA:3363
Fucosidosis
Failure to thrive, Hypothyroidism, Hyperhidrosis, Acrocyanosis, Lipoatrophy ORPHA:349
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Thyroid Dyshormonogenesis 2A
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... OMIM:274500
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Sarcoidosis
Parotitis, Abnormality of the adrenal glands, Hypothyroidism, Scarring, Hyperthyroidism, Weight l... ORPHA:797
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... OMIM:188570
Allan-Herndon-Dudley Syndrome
Decreased body mass index, Failure to thrive in infancy, Abnormality of thyroid physiology, Flexi... ORPHA:59
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Autoimmune Polyendocrinopathy Type 3
Thymoma, Type I diabetes mellitus, Xerostomia, Graves disease, Anterior pituitary dysgenesis, Aut... ORPHA:227982
Thyroid Dyshormonogenesis 1
Hypothyroidism, Umbilical hernia, Goiter OMIM:274400
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism, Umbilical hernia ORPHA:2349
Foxp1 Syndrome
Failure to thrive, Hypothyroidism, Flexion contracture, Overweight, Diabetes mellitus ORPHA:391372
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypoglycemia, Dorsocervical fat pad, Decreased body weight, Hypothyroidism, Delayed puberty, Diab... ORPHA:391408
Hawkinsinuria
Hypothyroidism, Failure to thrive ORPHA:2118
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Hypothyroidism, Delayed puberty, Ad... ORPHA:95496
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... ORPHA:90673
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Poems Syndrome
Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insufficiency, Acroc... ORPHA:2905
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism, Inguinal hernia OMIM:613970
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circul... OMIM:613038
Allan-Herndon-Dudley Syndrome
Flexion contracture, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration OMIM:300523
Leukodystrophy, Hypomyelinating, 24
Flexion contracture, Hypothyroidism OMIM:619851
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Failure to thrive, Decreased response to growth hormone stimulation test, Panhypopituitarism, Hyp... OMIM:618922
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Inguinal hernia, Hypoglycemia, Small for gestational age ORPHA:397590
4H Leukodystrophy
Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadism, Abnormality... ORPHA:289494
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hypothyroidism, Abnormality of the endocrine system, D... ORPHA:77296
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Hypothyroidism, Decreased body weight OMIM:618347
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Joint contracture of the hand, Foot joint contracture, Failure to thrive, Exocrine pancreatic ins... ORPHA:456312
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypothyroidism, Delayed puberty, Small for gestational age, Recurrent hypoglycemia OMIM:616817
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Hypothyroidism, Delayed puberty, Camptodactyly of finger ORPHA:2994
14Q11.2 Microduplication Syndrome
Obesity, Hypothyroidism ORPHA:261229
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Decreased circulating T4 concentration, Hypothyroidism, Failure to thrive OMIM:608104
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Athyreosis
Thyroid agenesis, Hypothyroidism ORPHA:95713
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Potocki-Lupski Syndrome
Hypothyroidism, Small for gestational age, Failure to thrive OMIM:610883
Precocious Puberty, Central, 1
Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele... OMIM:176400
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia, Failure to thrive ORPHA:79319
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Type I diabetes mellitus, Failure to thrive in infancy, Hypothyroidism, Thyroiditis OMIM:606367
Intellectual Disability-Strabismus Syndrome
Joint contracture of the hand, Failure to thrive, Decreased response to growth hormone stimulatio... ORPHA:363528
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Type I diabetes mellitus, Adrenal insufficiency, Primary adrenal insufficiency... OMIM:240300
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypogonadism, Obesity, Pseudohypoparathyroidism, ... OMIM:103580
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Hypothyroidism, Failure to thrive, Joint contracture OMIM:618005
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea... OMIM:225250
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Rabson-Mendenhall Syndrome
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me... ORPHA:769
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Failure to thrive in infancy, Hashimoto thyroiditis, Hypothyroidism, Ca... OMIM:613385
Cystinosis
Type I diabetes mellitus, Failure to thrive, Hypothyroidism, Delayed puberty, Nephrogenic diabete... ORPHA:213
Lig4 Syndrome
Hypothyroidism, Type II diabetes mellitus, Small for gestational age, Failure to thrive OMIM:606593
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... OMIM:610755
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Type I diabetes mellitus, Failure to thrive in infancy, Hypothyroidism, Camptodactyly, Thyroiditis ORPHA:228426
Stiff Person Spectrum Disorder
Hypothyroidism, Diabetes mellitus, Hyperhidrosis ORPHA:3198
Pendred Syndrome
Hyperparathyroidism, Hypothyroidism, Thyroid carcinoma, Goiter ORPHA:705
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... OMIM:218700
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Inguinal hernia, Hypothyroidism, Truncal obesity, Diabetes mellitus OMIM:616541
Reni Syndrome
Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypoglycemia OMIM:617575
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hyperglycemia, Hypogonadotropic hypogonadism, Hypothy... ORPHA:465508
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Pancreatitis, Small for gestational age, Failure to thrive ORPHA:1830
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Hypothyroidism, Goiter ORPHA:83601
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism, Failure to thrive OMIM:618999
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Exocrine pancreatic insuffi... ORPHA:1667
Oculoskeletodental Syndrome
Elbow flexion contracture, Hypothyroidism, Small for gestational age OMIM:618440
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Umbilical hernia, Decreased response to growth hormone stimulation test, Bilateral camptodactyly,... OMIM:619234
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Peripartum Cardiomyopathy
Abnormality of thyroid physiology, Diabetes mellitus, Obesity ORPHA:563
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Omenn Syndrome
Hypothyroidism, Failure to thrive, Thyroiditis ORPHA:39041
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hypothyroidism, Failure to thrive OMIM:304790
Nephrotic Syndrome, Type 1
Hypothyroidism, Small for gestational age OMIM:256300
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:612885
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypothyroidism, Umbilical hernia ORPHA:85321
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Abnormal subcutaneous fat tissue distribution, Hypothyroidism, Flexion contrac... OMIM:212065
Adiposis Dolorosa
Obesity, Hypothyroidism, Xerostomia ORPHA:36397
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Failure to thrive, Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty, Achilles t... OMIM:616263
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypothyroidism, Small for gestational age, Failure to thrive OMIM:619147
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Hypothyroidism, Decreased body weight OMIM:609053
Dominant Beta-Thalassemia
Hypopituitarism, Failure to thrive in infancy, Adrenal insufficiency, Hypothyroidism, Delayed pub... ORPHA:231226
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Abnormality of ... ORPHA:95712
Immunodeficiency, Common Variable, 8, With Autoimmunity
Type I diabetes mellitus, Hypothyroidism, Failure to thrive, Thyroiditis OMIM:614700
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Abnormal dental enamel morphology, Hypothyroidism, Inguinal hernia, Hypohidrosis ORPHA:1812
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism, Hypercapnia ORPHA:505395
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Failure to thrive, Corneal scarring, Decreased resting energy expenditure, Achilles tendon contra... ORPHA:404454
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Type I diabetes mellitus, Hypothyroidism, Delayed puberty OMIM:615952
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Type I diabetes mellitus, Hypothyroidism OMIM:620430
Pseudoxanthoma Elasticum
Multiple lipomas, Hypothyroidism ORPHA:758
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Intrahepatic Cholestasis Of Pregnancy
Hypothyroidism, Abnormal pineal melatonin secretion, Small for gestational age ORPHA:69665
Beta-Thalassemia Major
Hypopituitarism, Failure to thrive in infancy, Adrenal insufficiency, Hypothyroidism, Delayed pub... ORPHA:231214
Familial Adenomatous Polyposis
Abnormal cementum morphology, Pituitary adenoma, Goiter, Abnormality of the thyroid gland, Hypoth... ORPHA:733
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Hypothyroidism ORPHA:752
Dysbetalipoproteinemia
Acute pancreatitis, Obesity, Hypothyroidism, Diabetes mellitus ORPHA:412
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... OMIM:203800
Interstitial Lung And Liver Disease
Hypothyroidism, Hypoxemia, Failure to thrive OMIM:615486
Methimazole Embryofetopathy
Hypothyroidism, Abnormality of the thyroid gland ORPHA:1923
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypothyroidism, Hypohidrosis ORPHA:1563
Aicardi-Goutières Syndrome
Multiple joint contractures, Hypothyroidism, Acrocyanosis, Panniculitis, Diabetes mellitus, Lipoa... ORPHA:51
Maternal Uniparental Disomy Of Chromosome 2
Decreased response to growth hormone stimulation test, Hypothyroidism, Contractures of the large ... ORPHA:96179
Melas
Type I diabetes mellitus, Failure to thrive, Type II diabetes mellitus, Hypogonadotropic hypogona... ORPHA:550
Beta-Thalassemia Intermedia
Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypoparathyroidism, Diabetes mellitus ORPHA:231222
Isolated Biliary Atresia
Failure to thrive, Hypopituitarism, Severe failure to thrive, Hypothyroidism, Small for gestation... ORPHA:30391
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism, Progressive flexion contractures ORPHA:98808
Infantile Nephropathic Cystinosis
Glycosuria, Abnormality of thyroid physiology, Failure to thrive ORPHA:411629
Ring Chromosome 12 Syndrome
Hypothyroidism, Small for gestational age ORPHA:1439
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ectopic thyroid, Failure to thrive, Camptodactyly of finger, Thyroid agenesis, Hypothyroidism, Th... ORPHA:3047
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hypothyroidism, Failure to thrive, Thyroiditis ORPHA:83471
Martin-Probst Syndrome
Hypothyroidism, Umbilical hernia OMIM:300519
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis ORPHA:300298
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Tuberous Sclerosis 1
Precocious puberty, Hypothyroidism, Dental enamel pits, Shagreen patch OMIM:191100
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormality of thyroid physiology OMIM:300968
Beckwith-Wiedemann Syndrome
Hypoglycemia, Umbilical hernia, Exocrine pancreatic insufficiency, Adrenocortical cytomegaly, Obe... ORPHA:116
Immunodeficiency 31C
Hypothyroidism, Delayed puberty, Weight loss, Diabetes mellitus OMIM:614162
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Hypoglycemia, Hypothyroidism, Pancreatitis, Delayed puberty, Hypoglycemic seiz... ORPHA:79259
Lymphatic Malformation 6
Cellulitis, Hypothyroidism OMIM:616843
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Hypothyroidism, Absence of subcutaneous fat OMIM:620005
Syndromic Diarrhea
Hypoplasia of the thymus, Hypothyroidism, Inguinal hernia, Small for gestational age ORPHA:84064
Steinert Myotonic Dystrophy
Insulin resistance, Male hypogonadism, Decreased response to growth hormone stimulation test, Dec... ORPHA:273
Pearson Syndrome
Glycosuria, Decreased response to growth hormone stimulation test, Exocrine pancreatic insufficie... ORPHA:699
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Elbow flexion contracture, Knee flexion contracture, Hypothyroidism, Fle... ORPHA:3206
Tuberous Sclerosis 2
Precocious puberty, Hypothyroidism, Shagreen patch OMIM:613254
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Juvenile Nephropathic Cystinosis
Glycosuria, Hypothyroidism, Failure to thrive ORPHA:411634
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hypothyroidism, Abnormality of endocrine pancreas ph... ORPHA:93111
Microphthalmia, Syndromic 2
Umbilical hernia, Adrenal insufficiency, Contracture of the proximal interphalangeal joint of the... OMIM:300166
Digeorge Syndrome
Parathyroid hypoplasia, Umbilical hernia, Obesity, Inguinal hernia, Parathyroid agenesis, Hypopla... OMIM:188400
Primrose Syndrome
Glucose intolerance, Hip contracture, Knee flexion contracture, Hypothyroidism, Delayed puberty, ... OMIM:259050

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 Adgra1

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 Adgra1.

No publications found that use IMPC mice or data for Adgra1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Adgra1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Adgra1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Adgra1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Adgra1em1(IMPC)J Exon Deletion Mice

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