Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
CREB3 regulatory factor
Synonyms:
A930001N09Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Crebrf 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 Crebrf by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Autism
Impaired ability to form peer relationships, Restrictive behavior, Increased serum serotonin, Inf... OMIM:209850
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Restrictive behavior, Increased serum serotonin, Inf... OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Restrictive behavior, Increased serum serotonin, Inf... OMIM:608636
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608631
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 64
Aggressive behavior, Reduced social reciprocity OMIM:618103
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy, Reduced social reciprocity OMIM:606053
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Schizophrenia 15
Hyperactivity OMIM:613950
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity, Reduced social reciprocity, Aggressive behavior, Polyphagia ORPHA:329249
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Small for gestational age, Hyperactivity, Hirsutism ORPHA:85288
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Resting tremor, Abnormal fear-induced behavior, Obesity, Tremor... ORPHA:3077
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Inability to walk, Reduced social reciprocity, Dystonia, Motor stereotypy OMIM:617820
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163976
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Hyperactivity, Delayed early... OMIM:618090
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... OMIM:300888
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Intellectual Developmental Disorder, Autosomal Recessive 6
Kinetic tremor, Postural tremor, Reduced social reciprocity, Torticollis OMIM:611092
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Unsteady gait, Compulsive behaviors, Dystonia OMIM:301107
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, Restrictive behavior, Increased serum serotonin, Inf... OMIM:608049
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Irritability, Polyphagia, Weight loss, Inc... OMIM:275000
Panhypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95513
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased testicular s... ORPHA:95619
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva... OMIM:301077
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Tremor, Hyperactivity, Ataxia, Dystonia OMIM:615924
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Resistance To Thyrotropin-Releasing Hormone Syndrome
Depression, Increased circulating prolactin concentration, Decreased circulating T4 concentration... ORPHA:99832
Coffin-Siris Syndrome 8
Self-injurious behavior, Failure to thrive, Hypertrichosis, Long eyelashes, Thick eyebrow, Crypto... OMIM:618362
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Juvenile Huntington Disease
Broad-based gait, Depression, Gait ataxia, Irritability, Weight loss, Hyperactivity, Ataxia, Dyst... ORPHA:248111
Intellectual Developmental Disorder, X-Linked 104
Frontal upsweep of hair, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:300983
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Emotion... OMIM:614963
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Tremor, Paroxysmal bursts of laughter, Hyper... OMIM:618718
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Gait ataxia, Aggressive behavior, Hyperactivity, Motor stereotypy, Small for g... OMIM:609425
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615841
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Morm Syndrome
Aggressive behavior, Hyperactivity, Truncal obesity ORPHA:75858
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615842
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Thick eyebrow, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal ... ORPHA:444002
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Obesity, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia, Hypopigment... ORPHA:411515
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Gand Syndrome
Tics, Inappropriate laughter, Sparse hair, Hyperactivity OMIM:615074
Hsd10 Disease
Tremor, Gait disturbance, Ataxia, Dysphagia, Abnormal social behavior, Choreoathetosis ORPHA:391417
Foxg1 Syndrome
Difficulty walking, Bruxism, Inability to walk, Reduced social reciprocity, Stereotypical hand wr... ORPHA:561854
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circul... OMIM:613038
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hypothyroidism, Motor tics, Hyperactivity, Compulsive b... OMIM:619927
Adenohypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95512
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Anterior hypopituitarism, Breast hypoplasia, Absence of seco... ORPHA:2235
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Action tremor, Tremor, Reduced social reciprocity, Aggressive behavior, Ataxia, Dysto... OMIM:619738
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Athetosis ORPHA:382
Atypical Rett Syndrome
Restrictive behavior, Pill-rolling tremor, Inability to walk, Bruxism, Inappropriate laughter, Ga... ORPHA:3095
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... ORPHA:91349
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... ORPHA:251937
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Increased circulating cortico... OMIM:610600
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Aggressive behavior, Hyperactivity, Failur... OMIM:615286
Ane Syndrome
Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormo... ORPHA:157954
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Decreased ... OMIM:609734
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Phenylketonuria
Depression, Fair hair, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hype... OMIM:261600
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Reduced s... ORPHA:449291
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abno... ORPHA:556037
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Premature graying of hair, Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laug... OMIM:620445
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Aggressive behavior, Synophrys, Reduced social reciprocity, Supernumerary nipple OMIM:616083
Intellectual Developmental Disorder, Autosomal Dominant 7
Failure to thrive in infancy, Inappropriate laughter, Stereotypical hand wringing, Gait disturban... OMIM:614104
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Decreased serum insulin-like growth factor 1, Elevated circulating growth ho... ORPHA:85327
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Hand tremor, Goiter,... ORPHA:424
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response ORPHA:309246
Pigmented Nodular Adrenocortical Disease, Primary, 2
Depression, Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, ... OMIM:610475
Sheehan Syndrome
Secondary growth hormone deficiency, Sparse pubic hair, Decreased serum estradiol, Adrenocorticot... ORPHA:91355
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abno... ORPHA:556030
Adrenocortical Carcinoma
Increased circulating cortisol level, Hypertrichosis, Increased urinary cortisol level, Hyperaldo... ORPHA:1501
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration OMIM:264110
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Depression, Resting tremor, Limb ataxia, Gait ataxia, Tremor, Reduced social reciprocity, Dysmetr... OMIM:615157
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Highly arched eyebrow, Cryptorchidism, Generalized hirsutism, Polyphagia... ORPHA:228402
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Decreased serum insulin-like growth factor 1, Elevated circulating growth ... OMIM:608747
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Hand tremor, Goiter,... ORPHA:99819
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Depression, Increased circulating cor... OMIM:610489
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dystonia, Dysphagia, Impulsivity ORPHA:500180
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
Myoclonic-Astatic Epilepsy
Frontal balding, Abnormal emotion, Tremor, Reduced social reciprocity, Attention deficit hyperact... ORPHA:1942
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior ORPHA:530983
Meningioma
Increased circulating prolactin concentration, Difficulty walking, Emotional lability, Neoplasm o... ORPHA:2495
47,Xyy Syndrome
Cryptorchidism, Reduced social reciprocity, Attention deficit hyperactivity disorder, Increased s... ORPHA:8
Childhood Disintegrative Disorder
Abnormal emotion, Motor stereotypy, Reduced social reciprocity ORPHA:168782
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait OMIM:615516
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... OMIM:610042
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Obes... ORPHA:98794
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Hypopituitari... ORPHA:226307
Hyperthyroidism, Nonautoimmune
Small for gestational age, Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone lev... OMIM:609152
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Obesity, Hyperactivity OMIM:301013
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Depression, Elevated circulating parathyroid hormone lev... ORPHA:79444
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Sparse pubic hair, Pri... ORPHA:90796
Cortisone Reductase Deficiency 2
Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature... OMIM:614662
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Failure to thrive, Aggressive behavior, Attention deficit hyperactivity disorder, Hyp... OMIM:620242
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:64280
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Highly arched eyebrow, Broad-based gait, Failure to thrive, Stereotypical body rocking, Thick eye... OMIM:617865
Pediatric-Onset Graves Disease
Graves disease, Polydipsia, Failure to thrive, Goiter, Puberty and gonadal disorders, Emotional l... ORPHA:525731
Wagro Syndrome
Decreased testicular size, Obesity, Emotional lability, Reduced social reciprocity, Low frustrati... OMIM:612469
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... ORPHA:90695
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Depression, Elevated circulating parathyroid hormone lev... ORPHA:79443
48,Xxxy Syndrome
Hypogonadism, Decreased testicular size, Obesity, Type II diabetes mellitus, Cryptorchidism, Trem... ORPHA:96263
Young-Onset Parkinson Disease
Depression, Gait imbalance, Restless legs, Tremor, Reduced social reciprocity, Impulsivity, Dysto... ORPHA:2828
Citrullinemia Type Ii
Decreased body mass index, Delayed menarche, Abnormal eating behavior, Hyperlipidemia, Tremor, Ir... ORPHA:247585
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level, Disin... ORPHA:43
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Depression, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neo... ORPHA:189427
Adenylosuccinase Deficiency
Inability to walk, Inappropriate laughter, Gait ataxia, Self-mutilation, Opisthotonus, Aggressive... OMIM:103050
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Abnormal social behavior, Agitation, Disinhibition ORPHA:1020
Angelman Syndrome
Broad-based gait, Fair hair, Obesity, Progressive gait ataxia, Hyperactivity, Limb tremor, Ataxia... OMIM:105830
X-Linked Creatine Transporter Deficiency
Self-mutilation, Cachexia, Hyperactivity, Ataxia, Dystonia, Athetosis ORPHA:52503
Angelman Syndrome
Self-injurious behavior, Broad-based gait, Precocious puberty in females, Fair hair, Inability to... ORPHA:72
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Intellectual Developmental Disorder, X-Linked 98
Central hypothyroidism, Failure to thrive, Bulimia, Bruxism, Stereotypical body rocking, Recurren... OMIM:300912
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Abnormal temper tantrums, Obesity, Low frustration tolerance, Self-mutilation... ORPHA:163681
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, ... OMIM:617600
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Emo... OMIM:219090
Brain-Lung-Thyroid Syndrome
Falls, Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, Congeni... ORPHA:209905
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Decre... ORPHA:95494
Apparent Mineralocorticoid Excess
Polydipsia, Failure to thrive, Abnormality of circulating cortisol level, Decreased circulating r... ORPHA:320
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Gait ataxia, Emotional lability, Progressive gait ataxia, Dystonia, Abnormal social... ORPHA:309256
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Cryptorchidism, Adrenal hyperplasia, Polycystic o... ORPHA:95699
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Restlessness, Agitation ORPHA:100924
Fg Syndrome Type 1
Small pituitary gland, Broad-based gait, Slender build, Frontal upsweep of hair, Cryptorchidism, ... ORPHA:93932
Metachromatic Leukodystrophy, Adult Form
Depression, Difficulty walking, Emotional lability, Intention tremor, Progressive gait ataxia, Dy... ORPHA:309271
African Trypanosomiasis
Alopecia, Difficulty walking, Akinesia, Abnormality of circulating cortisol level, Tremor, Irrita... ORPHA:3385
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Gait ataxia, Emotional lability, Dysmetria, Hyperactivity, Dystonia, Dysphagi... OMIM:610217
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Intention tremor, Progressive gait ataxia, Dystonia, Abnormal social behavior ORPHA:309263
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Self-injurious behavior, Depression, Central hypothyroidism, Polydipsia, In... ORPHA:293987
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Decreased response to growth hormone stimulation test, Ob... ORPHA:177907
Ppoma
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... ORPHA:97278
Pallister-Hall Syndrome
Precocious puberty, Secondary growth hormone deficiency, Hypopituitarism, Panhypopituitarism, Dec... ORPHA:672
Choreoacanthocytosis
Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Loss of ambulation, Weight loss,... ORPHA:2388
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Depression, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Chor... OMIM:612716
Orthostatic Hypotension 1
Reduced circulating prolactin concentration OMIM:223360
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Pituitary adenoma, Pheochromocytoma, Aggressive behavior, At... ORPHA:805
Niemann-Pick Disease Type C
Depression, Limb dystonia, Axial dystonia, Tremor, Intention tremor, Disinhibition, Aggressive be... ORPHA:646
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Intention tremor, Dysmetria, Aggressive behavior, Ataxia, Unsteady gait, Abnormal social behavior... ORPHA:314647
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Phonic tics, Depression, Akinesia, Obsessive-compulsive trait, Tremor, Motor tics,... OMIM:234200
Mend Syndrome
Failure to thrive, Cryptorchidism, Aggressive behavior, Hyperactivity, Abnormal social behavior ORPHA:401973
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Obesity, Cryptorchidi... ORPHA:353281
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Alopecia, Small for gestational age, Fair hair, Decreased response to growth ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Alopecia, Small for gestational age, Fair hair, Decreased response to growth ... ORPHA:363958
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Thick eyebrow, Hyperactivity, Ataxia OMIM:620047
Dihydropyrimidine Dehydrogenase Deficiency
Short nail, Inability to walk, Long eyelashes, Irritability, Abnormal aggressive, impulsive or vi... ORPHA:1675
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Emot... ORPHA:99889
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Highly arched eyebrow, Trichiasis, Abnormal fear-induced behavior, Failu... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Highly arched eyebrow, Trichiasis, Abnormal fear-induced behavior, Failu... ORPHA:353277
Histidinemia
Hyperactivity ORPHA:2157
Williams Syndrome
Precocious puberty, Cholelithiasis, Depression, Failure to thrive in infancy, Obesity, Gait imbal... ORPHA:904

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 Crebrf

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 Crebrf.

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

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MGI Allele Allele Type Produced
Crebrftm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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