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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 thigmotaxis Efr3bem1(IMPC)Mbp HOM   Early adult 1.15×10-05
increased vertical activity Efr3bem1(IMPC)Mbp HOM Early adult 8.96×10-05
female infertility Efr3bem1(IMPC)Mbp HOM Early adult 0.00
increased anxiety-related response Efr3bem1(IMPC)Mbp HOM   Early adult 1.40×10-05
increased lean body mass Efr3bem1(IMPC)Mbp HOM Early adult 2.49×10-06
decreased circulating creatinine level Efr3bem1(IMPC)Mbp HOM Early adult 2.96×10-07
increased grip strength Efr3bem1(IMPC)Mbp HOM   Early adult 6.49×10-07
abnormal behavior Efr3bem1(IMPC)Mbp HOM   Early adult 1.17×10-05
impaired glucose tolerance Efr3bem1(IMPC)Mbp HOM   Early adult 4.27×10-05
decreased prepulse inhibition Efr3bem1(IMPC)Mbp HOM   Early adult 5.79×10-07
hyperactivity Efr3bem1(IMPC)Mbp HOM Early adult 3.55×10-39
decreased locomotor activity Efr3bem1(IMPC)Mbp HOM   Early adult 1.25×10-05
increased bone mineral content Efr3bem1(IMPC)Mbp HOM Early adult 4.99×10-06
decreased total body fat amount Efr3bem1(IMPC)Mbp HOM Early adult 1.98×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 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
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability, Ankle flexion contracture OMIM:616657
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxy... OMIM:239500
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Irritability, Hyp... OMIM:605899
Premature Ovarian Failure 2B
Osteoporosis, Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional lability, Neu... OMIM:234500
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
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
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... ORPHA:3077
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Obesity, Aggressive behavior OMIM:620270
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity, Hyperlysinuria OMIM:238700
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia, Aggr... OMIM:612736
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
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
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Elbow flexion contracture, Abnormal repetit... OMIM:619470
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Progressive cerebellar ataxia, ... ORPHA:248111
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... OMIM:609425
Coffin-Siris Syndrome 8
Hyperactivity, Inguinal hernia, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Fai... OMIM:618362
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Depres... OMIM:261600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Combined Oxidative Phosphorylation Deficiency 34
Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating creatinine concentration, Incr... OMIM:617872
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia OMIM:615924
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia OMIM:612716
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Increased level of gamma-aminobutyric acid in urine, Aggressive behavior, ... OMIM:271980
Landau-Kleffner Syndrome
Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Depression, Steppage gait, Attentio... ORPHA:98818
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior ORPHA:382
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperactivity, Hypertriglyceridemia, Ataxia, Reduced intraab... ORPHA:363400
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer... OMIM:619518
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration OMIM:619468
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... OMIM:300539
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Osteopenia, Eunuchoid habitus, Hypergonadotropic ... ORPHA:91
Preeclampsia
Small for gestational age, Elevated circulating creatinine concentration, Type I diabetes mellitus ORPHA:275555
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Citrullinemia Type Ii
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... ORPHA:247585
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Abnormal c... ORPHA:100924
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Osteoporosis, Truncal... ORPHA:73272
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Contracture of the proximal int... OMIM:620141
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... ORPHA:261529
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration OMIM:616733
Fanconi Renotubular Syndrome 3
Glycosuria, Aminoaciduria, Elevated circulating creatinine concentration, Rickets OMIM:615605
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... OMIM:620366
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Aggressive behavior, Depression, Self-injurious behavior, Irrit... ORPHA:449291
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, Irritability, Abnormal repet... ORPHA:391307
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Recurren... OMIM:617600
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention deficit hyperactivity disord... OMIM:620242
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia, Weight loss OMIM:275000
C3 Glomerulopathy
Lipodystrophy, Elevated circulating creatinine concentration ORPHA:329918
Interstitial Nephritis, Karyomegalic
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Elevated circulating creatinine concentration, Hypoalbuminemia, Camptodactyly, Fa... OMIM:608104
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevat... OMIM:608836
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Cachexia, Abnormal circulating creatine concentration, Athetosis, Self-mut... ORPHA:52503
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Impotence, Disinhibition, Gait disturbance, Attention deficit... ORPHA:43
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Osteomalacia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Hyperuricemia, Elevated circulating creatinine concentration, Self-mutilation ORPHA:79233
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
Argininemia
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Diaminoaciduria, Hyperargininemia, Spastic... OMIM:207800
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting OMIM:618314
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity, Decreased body weight OMIM:608747
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Aminoacidu... ORPHA:411634
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia OMIM:618885
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A... ORPHA:85450
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Dysphagia, ... OMIM:610217
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Anorexia, Elevated circulating creatinine ... ORPHA:49041
Sickle Cell Anemia
Osteoporosis, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Oligomeganephronia
Small for gestational age, Polydipsia, Elevated circulating creatinine concentration, Congenital ... ORPHA:2260
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Hyperactivity, Aggressive behavior ORPHA:85327
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Inguinal hernia, Elevated circulating creatinine concentration OMIM:614376
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Irritability, Elevated circulating creatinine concentration, Depression ORPHA:247691
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Os... ORPHA:99413
Turner Syndrome
Osteopenia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Os... ORPHA:881
Mosaic Monosomy X
Osteopenia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Os... ORPHA:99228
Monosomy X
Osteopenia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Os... ORPHA:99226
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Emotional lability, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Senior-Loken Syndrome 1
Polydipsia, Elevated circulating creatinine concentration OMIM:266900
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea OMIM:110100
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Elevated cir... OMIM:137920
Aapoaiv Amyloidosis
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration ORPHA:439232
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Marburg Hemorrhagic Fever
Hypoglycemia, Elevated circulating creatine kinase concentration, Anorexia, Aggressive behavior, ... ORPHA:99826
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Bacterial Toxic-Shock Syndrome
Fasciitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine co... ORPHA:36234
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Hypergonadotropic hypogonadism, Increased blood ur... OMIM:154230
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Bradykinesia, Gait dis... OMIM:234200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Irritability, Hypokalemia, Unconjuga... ORPHA:90038
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Multiple Myeloma
Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Hyperprote... ORPHA:29073
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Agitation, Decrea... ORPHA:340
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration, Reduced sperm motility ORPHA:730
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353281
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Anorexia, Elevated circulating creatinine ... ORPHA:91500
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353277
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:449395
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concen... OMIM:619534
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Yellow Fever
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... 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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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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