Gene Summary

Name:
arrestin, beta 2
Synonyms:
Arr3,  beta-arrestin2,  arrestin 3,  beta-arrestin-2,  beta arr2

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 circulating alkaline phosphatase level Arrb2tm1.1(KOMP)Vlcg HOM Early adult 1.33×10-16
increased circulating cholesterol level Arrb2tm1.1(KOMP)Vlcg HOM   Early adult 3.14×10-06
increased circulating free fatty acids level Arrb2tm1.1(KOMP)Vlcg HET Early adult 2.22×10-06
increased circulating phosphate level Arrb2tm1.1(KOMP)Vlcg HOM Early adult 4.64×10-05
increased grip strength Arrb2tm1.1(KOMP)Vlcg HOM   Early adult 1.75×10-06
increased circulating HDL cholesterol level Arrb2tm1.1(KOMP)Vlcg HOM Early adult 1.17×10-06
abnormal lens morphology Arrb2tm1.1(KOMP)Vlcg HOM   Early adult 2.87×10-05

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 50% (1 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 50% (1 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Peyer's patch 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)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Urinary bladder 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
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Dorsal root ganglion N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 50% (1 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 50% (1 of 2)
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 Ambiguous
N/A 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 50% (1 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 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 50% (1 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 1)
N/A 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)
N/A Ambiguous
Tail somite N/A heterozygote 50% (1 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 0.55% (3 of 550)
aorta 0.18% (1 of 566)
brain 0.92% (5 of 543)
brainstem 0.36% (2 of 563)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 563)
cerebellum 0.36% (2 of 561)
cerebral cortex 0.36% (2 of 558)
epididymis 13.77% (19 of 138)
esophagus 1.75% (7 of 400)
eye 0.0%
heart 0.35% (2 of 564)
hippocampus 0.36% (2 of 561)
hypothalamus 0.35% (2 of 572)
kidney 4.84% (27 of 558)
large intestine 5.45% (31 of 569)
liver 0.0%
lower urinary tract 0.18% (1 of 561)
lung 0.36% (2 of 555)
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.36% (2 of 557)
ovary 0.18% (1 of 554)
oviduct 0.0%
pancreas 0.73% (4 of 545)
peripheral nervous system 0.36% (2 of 563)
peyers patch 0.0%
pituitary gland 0.18% (1 of 565)
prostate gland 1.97% (11 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 561)
small intestine 5.24% (30 of 573)
spinal cord 0.54% (3 of 558)
spleen 0.54% (3 of 553)
stomach 3.76% (21 of 558)
striatum 0.54% (3 of 555)
submandibular gland 1.44% (2 of 139)
testis 0.71% (4 of 563)
thalamus 0.0%
thymus 0.18% (1 of 564)
thyroid gland 2.84% (16 of 563)
trachea 0.54% (3 of 558)
urinary bladder 0.0%
uterus 0.18% (1 of 570)
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 1.15% (5 of 436)
central nervous system ganglion 1.45% (1 of 69)
dorsal root ganglion 1.89% (1 of 53)
ear 0.23% (1 of 434)
embryo 0.45% (2 of 444)
eye 0.23% (1 of 430)
footplate 0.0%
forebrain 0.23% (1 of 431)
forelimb 0.23% (1 of 435)
fronto-nasal process 2.04% (1 of 49)
handplate 0.23% (1 of 443)
head 0.7% (3 of 426)
heart 0.23% (1 of 437)
hindbrain 1.12% (5 of 448)
hindlimb 0.23% (1 of 443)
liver 0.23% (1 of 442)
lung 0.22% (1 of 453)
mandibular process 0.23% (1 of 444)
maxillary process 0.0%
midbrain 0.23% (1 of 435)
nose 1.56% (1 of 64)
oral cavity 0.24% (1 of 424)
skin 0.22% (1 of 447)
spinal cord 1.43% (1 of 70)
tail 0.23% (1 of 440)
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.

Adult LacZ

LacZ Images Section

40 Images

Sleep Wake

Wake state (bmp file)

22 Images

X-ray

XRay Images Whole Body Dorso Ventral

34 Images

X-ray

XRay Images Forepaw

34 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

34 Images

Eye Morphology

Images Slit Lamp

5 Images

X-ray

XRay Images Skull Lateral Orientation

34 Images

X-ray

XRay Images Whole Body Lateral Orientation

34 Images

Combined SHIRPA and Dysmorphology

Images

5 Images

Electroretinography

Cone waveform (pdf format)

8 Images

Auditory Brain Stem Response

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

16 Images

Electroretinography

Rod waveform (pdf format)

8 Images

Human diseases caused by Arrb2 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 Arrb2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Cataract, Hypocalcemic seizures OMIM:146200
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... OMIM:620058
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Inappropriate... OMIM:618944
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Hepatic Lipase Deficiency
Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever, Recurrent bacterial skin infections ORPHA:183713
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Cataract, Corneal arcus OMIM:618463
Hypercholesterolemia, Familial, 2
Xanthelasma, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Cataract, Conjunctivitis, Hypocalcemic seiz... ORPHA:36913
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Cataract, Conjunctivitis, Hypocalcemic seiz... ORPHA:94089
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Cataract OMIM:612462
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Recurrent fever, Fever, Colitis, Folliculitis, Recu... OMIM:300635
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:158061
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Kerion Celsi
Fever, Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Recurrent ski... ORPHA:499
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Cataract OMIM:103580
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Conjunctival whitish salt-like deposits, Hyperphosphatemia OMIM:211900
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia ORPHA:99845
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Fever, Skin rash OMIM:619175
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Sanjad-Sakati Syndrome
Corneal opacity, Hypocalcemia, Hyperphosphatemia, Astigmatism ORPHA:2323
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Recurrent fever, Fever, Colitis, Recurrent sinusiti... OMIM:613101
Linear Verrucous Nevus Syndrome
Abnormal cornea morphology, Hypophosphatemia, Cataract, Iris coloboma ORPHA:2611
Galactokinase Deficiency
Nuclear cataract, Increased level of galactitol in plasma, Hypergalactosemia, Cataract, Hyperchol... ORPHA:79237
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Developmental cataract, Transient hypophosphatemia OMIM:127000
Hyperferritinemia With Or Without Cataract
Increased circulating ferritin concentration, Pulverulent cataract, Nuclear cataract OMIM:600886
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Crohn's disease, Fever, Pustule, Myositis, Arthritis, Incre... ORPHA:69126
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Fever, Reduced isohemagg... OMIM:614699
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acetylcarnitine concentration, Hyperammonemia, Increased circulating free fa... ORPHA:71212
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... ORPHA:94093
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Cataract, Calcinosis, Conjunctivitis, Hypoc... ORPHA:79444
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level ORPHA:2457
Immunodeficiency 105
Decreased circulating IgA level, Fever, Decreased circulating IgG level, Skin rash, Decreased cir... OMIM:619924
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Periodic fever, Fever, Conjunctivitis, Arthritis OMIM:617772
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Blue irides OMIM:101800
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Band keratopathy, Hypocalcemic tetany, Hyperphosphatemia, Cataract, Calcinosis, Con... ORPHA:79443
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Developmental cataract, Hypocalcemic seizures ORPHA:93325
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Fever, Decreased circulating IgG level, Chronic oral candid... ORPHA:169160
Chronic Recurrent Multifocal Osteomyelitis
Fever, Osteomyelitis, Palmoplantar pustulosis OMIM:259680
Immunodeficiency 27A
Fever, Increased circulating IgG level, Increased inflammatory response, Increased circulating Ig... OMIM:209950
Focal Myositis
Fever, Elevated circulating creatine kinase concentration, Myositis ORPHA:48918
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Familial Cold Autoinflammatory Syndrome 1
Recurrent fever, Fever, Elevated circulating C-reactive protein concentration, Skin rash, Arthrit... OMIM:120100
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... OMIM:238600
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Reticular Dysgenesis
Fever, Decreased circulating antibody level, Chronic otitis media, Skin rash ORPHA:33355
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... ORPHA:26793
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Megalocornea-Intellectual Disability Syndrome
Abnormal anterior chamber morphology, Megalocornea, Astigmatism, Iridodonesis, Hypoplasia of the ... ORPHA:2479
Laron Syndrome
Hypercholesterolemia ORPHA:633
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Recurrent fever, Fever, Skin rash, Hypertriglycerid... OMIM:603552
Rosaï-Dorfman Disease
Fever, Dysgammaglobulinemia ORPHA:158014
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Sitosterolemia 1
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hypercholesterolemia, X... OMIM:210250
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... ORPHA:412
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia ORPHA:77296
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hypertriglyceridemia, Fever OMIM:608898
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Pyoderma Gangrenosum
Increased circulating antibody level, Fever, Pustule, Rheumatoid arthritis, Myositis, Inflammatio... ORPHA:48104
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Fever, Skin rash, Recurrent skin infections, Chronic otitis media, Arth... ORPHA:33110
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Fever, H... ORPHA:542323
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level OMIM:610768
Neutrophilic Dermatosis, Acute Febrile
Cystic acne, Increased circulating interleukin 6 concentration, Recurrent fever, Elevated circula... OMIM:608068
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide level ORPHA:157215
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:619662
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:398063
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Recurrent fever, Fever, Elevated circulating C-reac... OMIM:616050
Immunodeficiency 32B
Bronchiectasis, Sinusitis, Fever, Pneumonia OMIM:226990
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Megalocornea-Mental Retardation Syndrome
Iridodonesis, Megalocornea, Hypoplasia of the iris, Hypercholesterolemia OMIM:249310
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Alport Syndrome 3, Autosomal Dominant
Azotemia, Lenticonus, Hypophosphatemia, Anterior polar cataract OMIM:104200
Cystinosis
Corneal opacity, Hypophosphatemia, Hypokalemia ORPHA:213
Proteasome-Associated Autoinflammatory Syndrome 2
Fever, Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Sk... OMIM:618048
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion, Iridocyclitis, Oligoarthritis, Skin rash, Iritis,... ORPHA:85436
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:466650
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Igg4-Related Aortitis
Increased circulating antibody level, Fever, Elevated circulating C-reactive protein concentratio... ORPHA:449400
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia, Blue irides ORPHA:280651
Lysosomal Acid Lipase Deficiency
Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:278000
X-Linked Agammaglobulinemia
Sinusitis, Osteomyelitis, Hypocalcemia, Fever, Skin rash, Chronic otitis media, Arthritis, Hepati... ORPHA:47
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Smith-Magenis Syndrome
Hypertriglyceridemia, Microcornea, Hypercholesterolemia ORPHA:819
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia ORPHA:340
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Elevated circulating creatine kinase ... OMIM:619743
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... ORPHA:31824
Hereditary Fructose Intolerance
Hypophosphatemia, Cataract, Hyperuricemia, Hypermagnesemia ORPHA:469
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calcium concentration OMIM:307800
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Systemic-Onset Juvenile Idiopathic Arthritis
Fever, Elevated circulating C-reactive protein concentration, Skin rash, Juvenile rheumatoid arth... ORPHA:85414
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Fever, Increased circulating IgM level ORPHA:2688
Pfapa Syndrome
Abnormality of temperature regulation, Infectious encephalitis, Arthritis ORPHA:42642
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Hypophosphatemia OMIM:241530
Juvenile Nephropathic Cystinosis
Abnormal cornea morphology, Hypophosphatemia, Hypokalemia, Hypocalcemia, Corneal crystals, Hypoca... ORPHA:411634
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hypouricemia OMIM:616026
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Decreased circulating IgA level, Colitis, Decreased... OMIM:619802
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Infantile Nephropathic Cystinosis
Abnormal cornea morphology, Hypophosphatemia, Hypokalemia, Corneal crystals, Abnormal blood ion c... ORPHA:411629
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:79240
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:370
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Psoriasis 14, Pustular
Oligoarthritis, Fever, Elevated circulating C-reactive protein concentration, Pustule, Cholangiti... OMIM:614204
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypophosphatemia, Hypercalcemia OMIM:239200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:264580
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent fever, Increased circulating interleukin 6 concentration, Chronic gastritis, Colitis, E... OMIM:301074
Pneumocystosis
Increased circulating antibody level, Fever, Chronic oral candidiasis, Interstitial pneumonitis, ... ORPHA:723
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Bardet-Biedl Syndrome 20
Astigmatism, Hypercholesterolemia OMIM:619471
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgA level, Fever, Decreased circulating IgG level, Skin rash, Decreased cir... ORPHA:331206
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia, Fever, Panniculitis OMIM:618398
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level ORPHA:90674
Beta-Thalassemia
Abnormality of iron homeostasis, Hepatitis, Abnormality of temperature regulation ORPHA:848
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Increased LDL cholesterol concentration, Hyperammon... ORPHA:470
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... ORPHA:90041
Aregenerative Anemia
Bone marrow hypocellularity, Abnormality of interleukin secretion, Fever ORPHA:101096
Alagille Syndrome 1
Band keratopathy, Abnormal anterior chamber morphology, Axenfeld anomaly, Posterior embryotoxon, ... OMIM:118450
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Hypercholesterolemia OMIM:248370
Lowe Oculocerebrorenal Syndrome
Dense posterior cortical cataract, Bicarbonaturia, Developmental cataract, Hypercholesterolemia, ... OMIM:309000
Dent Disease 1
Hypophosphatemia OMIM:300009
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hypertriglyceridemia, Hyponatremia, Hypercholesterolemia, Xanthelasma, Hyperkalemia ORPHA:275761
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Transient hypophosphatemia... ORPHA:79102
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Bicarbonatur... ORPHA:3337
Oculocerebrorenal Syndrome Of Lowe
Corneal opacity, Hypophosphatemia, Hypokalemia, Abnormal pupil morphology, Hypoammonemia, Buphtha... ORPHA:534
Dent Disease
Elevated circulating creatine kinase concentration, Cataract, Renal hypophosphatemia ORPHA:1652
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Steatorrhea, Corneal stromal edema, ... ORPHA:699
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Heat intolerance OMIM:612132
Mccune-Albright Syndrome
Primary hypercortisolism, Hypophosphatemia, Increased circulating cortisol level ORPHA:562
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Cystinosis, Nephropathic
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Recurrent corneal erosio... OMIM:219800
Rat-Bite Fever
Oligoarthritis, Fever, Pancreatitis, Pustule, Skin rash, Maculopapular exanthema, Lymphadenitis, ... ORPHA:31205
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation ORPHA:98757
Opsismodysplasia
Hypophosphatemia OMIM:258480
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level ORPHA:249
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hypertriglyceridemia, Hyperuricemia, Xanthelasma, Hypercholesterolemia ORPHA:79259
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Decreased circulating IgA level, Colitis, Decreased... ORPHA:2442
Raine Syndrome
Hypophosphatemia OMIM:259775
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Abnormality of temperature regulation, Hypothermia, Fever, Recurrent pneumonia OMIM:618493
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Cataract, Developmental cataract, Hypercholesterolemia OMIM:606721
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Fructose Intolerance, Hereditary
Bicarbonaturia, Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia OMIM:229600
Joubert Syndrome 35
Abnormality of temperature regulation OMIM:618161
Chronic Mucocutaneous Candidiasis
Abnormality of temperature regulation, Cheilitis, Hepatitis, Skin rash ORPHA:1334
Autosomal Recessive Hypophosphatemic Rickets
Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Steinert Myotonic Dystrophy
Astigmatism, Posterior subcapsular cataract, Hypercholesterolemia ORPHA:273
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Cockayne Syndrome Type 1
Abnormality of temperature regulation, Uveitis, Conjunctivitis, Increased blood urea nitrogen ORPHA:90321
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation OMIM:619173
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, ... OMIM:619534
Machado-Joseph Disease Type 1
Abnormality of temperature regulation ORPHA:276238
Machado-Joseph Disease Type 2
Abnormality of temperature regulation ORPHA:276241
Machado-Joseph Disease Type 3
Abnormality of temperature regulation ORPHA:276244
Stuve-Wiedemann Syndrome 1
Recurrent fever, Fever, Abnormality of temperature regulation OMIM:601559
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Blepharitis, Cheilitis, Abnormality of temperature regulation, Eczema, Heat intoleranc... ORPHA:2273
Acute Transverse Myelitis
Abnormality of temperature regulation, Fever, Decreased circulating copper concentration ORPHA:139417
Ulnar-Mammary Syndrome
Abnormality of temperature regulation ORPHA:3138
Central Hypoventilation Syndrome, Congenital, 1
Abnormality of temperature regulation OMIM:209880
Deeah Syndrome
Abnormality of temperature regulation OMIM:619004

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 Arrb2

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 Arrb2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
β-Arrestin-Dependent Dopaminergic Regulation of Calcium Channel Activity in the Axon Initial Segment. Cell reports (July 2016) Arrb2tm1.1(KOMP)Vlcg PMC5074334

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MGI Allele Allele Type Produced
Arrb2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Arrb2tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Arrb2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Arrb2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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