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Gene: Efr3b MGI:2444851

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Gene Summary

Name:
EFR3 homolog B
Synonyms:
C030014M07Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased anxiety-related response Efr3bem1(IMPC)Mbp HOM   Early adult 1.40×10-05
decreased total body fat amount Efr3bem1(IMPC)Mbp HOM Early adult 1.98×10-06
increased lean body mass Efr3bem1(IMPC)Mbp HOM Early adult 2.49×10-06
decreased prepulse inhibition Efr3bem1(IMPC)Mbp HOM Early adult 7.37×10-06
increased thigmotaxis Efr3bem1(IMPC)Mbp HOM   Early adult 3.00×10-05
impaired glucose tolerance Efr3bem1(IMPC)Mbp HOM   Early adult 4.27×10-05
decreased circulating glucose level Efr3bem1(IMPC)Mbp HOM Early adult 5.58×10-06
decreased circulating creatinine level Efr3bem1(IMPC)Mbp HOM Early adult 2.96×10-07
hyperactivity Efr3bem1(IMPC)Mbp HOM Early adult 3.43×10-39
decreased locomotor activity Efr3bem1(IMPC)Mbp HOM   Early adult 1.26×10-06
increased grip strength Efr3bem1(IMPC)Mbp HOM   Early adult 6.49×10-07
abnormal behavior Efr3bem1(IMPC)Mbp HOM   Early adult 3.01×10-05
female infertility Efr3bem1(IMPC)Mbp HOM Early adult 0.00
increased bone mineral content Efr3bem1(IMPC)Mbp HOM Early adult 4.99×10-06

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Histopathology

Images

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Efr3b 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 Efr3b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea OMIM:300604
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Hyperprolinemia, Type I
Prolinuria, Hyperactivity, Hyperglycinuria, Ataxia, Hydroxyprolinuria, Motor stereotypy, Hyperpro... OMIM:239500
Glycine Encephalopathy 1
Irritability, Hyperactivity, Hyperglycinuria, Impulsivity, Restlessness, Hyperglycinemia, Letharg... OMIM:605899
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity, Gait ataxia OMIM:620448
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Agitation, Hyperinsulinemia, Neonatal hypoglycemia, Maturity-onset dia... ORPHA:324575
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia, Irritability, Ataxia OMIM:240800
Hartnup Disorder
Hyperactivity, Emotional lability, Episodic ataxia, Attention deficit hyperactivity disorder, Neu... OMIM:234500
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia, Hypergonadotropic hypogonadism, Increased blood urea nitrogen, Failure to thrive, E... OMIM:617872
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Ataxia, Elevated circulating guanidinoacetic acid concentration, Aggr... OMIM:612736
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Attention def... OMIM:620211
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Classic Galactosemia
Premature ovarian insufficiency, Reduced bone mineral density, Male infertility, Gait imbalance, ... ORPHA:79239
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity OMIM:617113
Juvenile Huntington Disease
Bradykinesia, Irritability, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Depre... ORPHA:248111
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Unsteady gait, Aggressive behavior OMIM:301107
Phenylketonuria
Irritability, Hyperactivity, Depression, Hyperphenylalaninemia, Compulsive behaviors, Maternal hy... OMIM:261600
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Failure to thrive, Hypocystinemia, Hypohomocysteinemia OMIM:617744
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Generalized lipodystrophy, Hyperactivity, Gait ataxia, Re... ORPHA:363400
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Irritability, Postprandial hyperglycemia, Ketotic hypoglycemia, Hyperlipidemia, Failure to thrive... ORPHA:2089
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility OMIM:620548
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Irritability, Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum cre... OMIM:300539
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Bradykinesia, Nail-biting, Hyperactivity, Attention deficit hyperactivity... OMIM:619827
Aromatase Deficiency
Osteopenia, Male infertility, Delayed epiphyseal ossification, Hyperlipidemia, Osteoporosis, Hype... ORPHA:91
Hyperlysinemia, Type I
Argininuria, Hyperactivity, Dysdiadochokinesis, Hyperlysinemia, Hypoornithinemia, Ornithinuria, H... OMIM:238700
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration OMIM:619468
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Failure to t... OMIM:619518
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Osteoporosis, Failure to thrive, Neonatal hyperbilirubinemia, Hypogonadism, Attent... ORPHA:73272
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Hypokalemia, Emotional lability, Impaired glucose tolerance, Oste... OMIM:219090
Citrullinemia Type Ii
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Decreased body mass ... ORPHA:247585
Fanconi Renotubular Syndrome 3
Rickets, Glycosuria, Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Unsteady gait, Self-mutilation, Aggressive behavior OMIM:615516
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St... OMIM:612310
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, Di... ORPHA:100924
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Elevated circulating creatinine concentration, Small for gestational age OMIM:616733
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Female infertility OMIM:617442
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Glycosuria, Elevated circulating creatinine concentration OMIM:614817
Developmental Delay, Language Impairment, And Ocular Abnormalities
Inguinal hernia, Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attentio... OMIM:620141
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Osteopetrosis, Increased bone mineral density, Cortical sclerosis, Elevated circula... OMIM:620366
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elbow flexion contracture, Elevated circulating long chain fatty acid concentration, Elevated cir... OMIM:608836
Ring Chromosome Y Syndrome
Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Obesity, Female infer... ORPHA:261529
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia, Hyperactivity, Recurrent hand flapping, Slender build, Motor stereotypy, A... OMIM:617600
C3 Glomerulopathy
Elevated circulating creatinine concentration, Lipodystrophy ORPHA:329918
Preeclampsia
Elevated circulating creatinine concentration, Type I diabetes mellitus, Small for gestational age ORPHA:275555
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Recurrent hand flapping, Motor... ORPHA:449291
Renal Tubular Acidosis, Proximal
Rickets, Elevated circulating creatinine concentration, Osteomalacia OMIM:179830
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Retrograde ejaculation, Hypoglycemia, Increased blood urea nitrogen, Insulin re... ORPHA:230
Mody
Large for gestational age, Neonatal hypoglycemia, Glucose intolerance, Abnormal circulating C-pep... ORPHA:552
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Osteomalacia, Hypokalemia OMIM:179800
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Elevated circulating creatinine concentration, Hypoalbuminemia, Camptodactyly OMIM:608104
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age, Hypouricemia, Glycosuria, Hypophosphatemia, Hypoglycemia, Dia... OMIM:616026
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
X-Linked Creatine Transporter Deficiency
Hyperactivity, Cachexia, Athetosis, Ataxia, Abnormal circulating creatine concentration, Self-mut... ORPHA:52503
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia OMIM:618885
Juvenile Nephropathic Cystinosis
Polydipsia, Hypokalemia, Hypocalcemia, Hypouricemia, Failure to thrive, Hyponatremia, Glycosuria,... ORPHA:411634
Multiple Mitochondrial Dysfunctions Syndrome 7
Irritability, Agitation, Hyperactivity, Impulsivity, Hypernatremia, Hyperglycemia, Hypoglycemia, ... OMIM:620423
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Male infertility, Decreased circulating apolipoprotein A... ORPHA:85450
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Hyperactivity, Depression, Hyperphenylalaninemia, Abnormal circu... OMIM:612716
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Inguinal hernia OMIM:614376
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Diabetes mellitus, Hyperlipidemia ORPHA:439232
Argininemia
Anorexia, Spastic gait, Irritability, Hyperactivity, Hyperargininemia, Hyperammonemia, Diaminoaci... OMIM:207800
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Retrograde ejaculation, Elevated circulating C-reactive protein concentration, Impotenc... ORPHA:49041
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Depression, Irritability, Elevated circulating creatinine concentration ORPHA:247691
Oligomeganephronia
Polydipsia, Elevated circulating creatinine concentration, Congenital diaphragmatic hernia, Small... ORPHA:2260
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hyperuricemia, Impaired glucose tolerance, Glycosuria, Diab... OMIM:137920
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Emotional lability OMIM:223900
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Premature ovarian insufficiency, Reduced bone mineral density, Hyperinsulinemia, Seco... ORPHA:99413
Turner Syndrome
Osteopenia, Premature ovarian insufficiency, Reduced bone mineral density, Hyperinsulinemia, Seco... ORPHA:881
Mosaic Monosomy X
Osteopenia, Premature ovarian insufficiency, Reduced bone mineral density, Hyperinsulinemia, Seco... ORPHA:99228
Monosomy X
Osteopenia, Premature ovarian insufficiency, Reduced bone mineral density, Hyperinsulinemia, Seco... ORPHA:99226
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior ORPHA:309246
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Neurodegeneration With Brain Iron Accumulation 2B
Bradykinesia, Hyperactivity, Emotional lability, Dysdiadochokinesis, Impulsivity, Gait ataxia, Dy... OMIM:610217
Marburg Hemorrhagic Fever
Anorexia, Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hypog... ORPHA:99826
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypergonadotropic h... OMIM:154230
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Premature ovarian insufficiency, Female infertility, Irregular menstruation OMIM:110100
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatine kinase concentration, Cellulitis, Hypoalbuminemia, El... ORPHA:36234
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati... OMIM:613095
Hypomagnesemia 3, Renal
Polydipsia, Rickets, Amelogenesis imperfecta, Hypocalcemic seizures, Increased circulating beta-C... OMIM:248250
Senior-Loken Syndrome 1
Polydipsia, Elevated circulating creatinine concentration OMIM:266900
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Irritability, Hypokalemia, Unconjugated hyperbilirubinemia, Hyponatremia, Elevated circulating cr... ORPHA:90038
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Histidinemia
Hyperactivity, Hyperhistidinemia, Histidinuria ORPHA:2157
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Multiple Myeloma
Osteopenia, Hypercalcemia, Weight loss, Hyperproteinemia, Elevated circulating creatinine concent... ORPHA:29073
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Sickle Cell Anemia
Elevated circulating creatinine concentration, Priapism, Osteoporosis, Unconjugated hyperbilirubi... ORPHA:232
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Agitation, Decreased body weight, Hyperphosphatemia, Elevated circulating creatinin... ORPHA:340
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Reduced haptoglobin level OMIM:301110
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration, Reduced sperm motility ORPHA:730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Oligomenor... ORPHA:572333
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Elevated circulating C-reactive protein concentration, Chorioretinal scar, Weight loss,... ORPHA:91500
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... ORPHA:353281
Igg4-Related Kidney Disease
Prostatitis, Elevated circulating C-reactive protein concentration, Decreased retinol-binding pro... ORPHA:449395
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Inguinal hernia, Hyperbilirubinemia, Failure to thrive, Conjugated hyperbilirubinemia... OMIM:619534
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... ORPHA:353277
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating creatine ... ORPHA:99829

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 Efr3b

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 Efr3b.

No publications found that use IMPC mice or data for Efr3b.

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

MGI Allele Allele Type Produced
Efr3bem1(IMPC)Mbp Exon Deletion Mice, Tissue
Efr3btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Efr3btm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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