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Gene: Creb1 MGI:88494

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cAMP responsive element binding protein 1
Synonyms:
2310001E10Rik,  Creb,  3526402H21Rik,  Creb-1

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IMPC Data Collections

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

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.

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 Creb1 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.

The table below shows human diseases associated to Creb1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Histiocytoma, Angiomatoid Fibrous
OMIM:612160

The table below shows human diseases predicted to be associated to Creb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Photoparoxysmal Response 1
EEG with photoparoxysmal response OMIM:132100
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Lethal Congenital Contracture Syndrome 11
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:617194
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary hypoplasia OMIM:245650
Mitochondrial Complex I Deficiency, Nuclear Type 35
Intrauterine growth retardation, Neonatal death, Pulmonary hypoplasia OMIM:619003
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Pulmonary hypoplasia OMIM:614096
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia OMIM:615524
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:616733
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia OMIM:617468
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia OMIM:616867
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Primary Pulmonary Hypoplasia
Pneumothorax, Pulmonary hypoplasia, Intrauterine growth retardation, Recurrent respiratory infect... ORPHA:2257
Atelosteogenesis, Type Ii
Stillbirth, Pulmonary hypoplasia OMIM:256050
Progressive Supranuclear Palsy
Bradykinesia, Memory impairment, Falls, Cognitive impairment, Abnormal synaptic transmission, Uns... ORPHA:683
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Neonatal death, Pulmonary hypoplasia OMIM:236500
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:3035
Matthew-Wood Syndrome
Intrauterine growth retardation, Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Stillbirth, Pulmonary hypoplasia OMIM:615415
Thanatophoric Dysplasia
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:2655
Serkal Syndrome
Pulmonary hypoplasia ORPHA:139466
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia OMIM:241800
Multiple Pterygium Syndrome, X-Linked
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:312150
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Pulmonary hypoplasia OMIM:263210
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia OMIM:300978
Fetal Akinesia Deformation Sequence
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:994
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pulmonary hypoplasia OMIM:224410
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:253290
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary hypoplasia, Recurrent respiratory infections, Pulmonary artery atresia OMIM:618316
Nephronophthisis 2
Pulmonary hypoplasia OMIM:602088
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pulmonary hypoplasia, Pleural effusion, Intrauterine growth retardation OMIM:616897
Alg3-Cdg
Pulmonary hypoplasia ORPHA:79321
Agnathia-Otocephaly Complex
Pulmonary hypoplasia OMIM:202650
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Pulmonary hypoplasia ORPHA:2847
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:86822
Thanatophoric Dysplasia, Type I
Neonatal death, Pulmonary hypoplasia OMIM:187600
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Pulmonary hypoplasia OMIM:314390
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:617895
Microphthalmia, Syndromic 9
Bilateral lung agenesis, Pulmonary artery atresia, Agenesis of pulmonary vessels, Pulmonary hypop... OMIM:601186
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Neonatal death, Pulmonary hypoplasia OMIM:251230
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Maternal Uniparental Disomy Of Chromosome 2
Intrauterine growth retardation, Respiratory infections in early life, Pulmonary hypoplasia ORPHA:96179
Scimitar Syndrome
Pneumothorax, Bronchogenic cyst, Pulmonary sequestration, Pulmonary artery hypoplasia, Abnormal l... ORPHA:185
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Pulmonary hypoplasia OMIM:151210
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Pulmonary hypoplasia OMIM:616866
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Pulmonary hypoplasia OMIM:231680
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia OMIM:620306
Marden-Walker Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:248700
Meacham Syndrome
Stillbirth, Cardiac total anomalous pulmonary venous connection, Scimitar anomaly, Neonatal death... OMIM:608978
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:958
Diaphanospondylodysostosis
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:608022
Meckel Syndrome, Type 6
Pulmonary hypoplasia, Bilobed right lung OMIM:612284
Teebi Hypertelorism Syndrome 1
Pulmonary hypoplasia OMIM:145420
Tetrasomy 5P
Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:617022
Gaucher Disease, Perinatal Lethal
Intrauterine growth retardation, Neonatal death, Pulmonary hypoplasia OMIM:608013
Kagami-Ogata Syndrome
Pulmonary hypoplasia OMIM:608149
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Pulmonary hypoplasia OMIM:263200
Caudal Regression Syndrome
Pulmonary hypoplasia ORPHA:3027
Distal Triplication 15Q
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:314588
Czeizel-Losonci Syndrome
Pulmonary hypoplasia ORPHA:2437
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Anomalous origin of right pulmona... ORPHA:99050
Chromosome 1Q41-Q42 Deletion Syndrome
Pulmonary hypoplasia OMIM:612530
Congenital Tracheomalacia
Pneumothorax, Emphysema, Bronchiectasis, Pulmonary hypoplasia, Partial anomalous pulmonary venous... ORPHA:95430
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:614091
Atelosteogenesis Type I
Pulmonary hypoplasia ORPHA:1190
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:615503
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Interstitial emphysema, Pulmonary hypoplasia OMIM:619708
Renal Agenesis, Bilateral
Pulmonary hypoplasia ORPHA:1848
Acrocephalopolydactylous Dysplasia
Pulmonary hypoplasia, Extrapulmonary lobar sequestration OMIM:200995
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia ORPHA:1865
Renal Agenesis
Pulmonary hypoplasia ORPHA:411709
Meckel Syndrome 14
Pneumothorax, Pulmonary hypoplasia OMIM:619879
Congenital Myopathy 17
Pulmonary hypoplasia, Respiratory tract infection OMIM:618975
Achondrogenesis, Type Ia
Stillbirth, Pulmonary hypoplasia OMIM:200600
Thoracoabdominal Syndrome
Pulmonary hypoplasia OMIM:313850
Oligomeganephronia
Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Mosaic Trisomy 16
Intrauterine growth retardation, Abnormal lung morphology, Pulmonary hypoplasia ORPHA:1708
Short-Rib Thoracic Dysplasia 12
Pulmonary hypoplasia, Neonatal death, Atelectasis, Intrauterine growth retardation OMIM:269860
Genitopatellar Syndrome
Pulmonary hypoplasia ORPHA:85201
Autosomal Recessive Multiple Pterygium Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:2990
Pentalogy Of Cantrell
Pulmonary hypoplasia ORPHA:1335
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonary hypoplasia OMIM:619148
Mosaic Trisomy 1
Pulmonary hypoplasia, Pulmonary artery atresia ORPHA:1692
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Peripheral pulmonary artery st... OMIM:613177
Truncus Arteriosus
Abnormal lung lobation, Pulmonary edema, Pulmonary artery atresia, Pulmonary artery hypoplasia, P... ORPHA:3384
Vacterl With Hydrocephalus
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:3412
Achondroplasia
Pulmonary hypoplasia OMIM:100800
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Pulmonary hypoplasia, Mild intrauterine growth retardation OMIM:308050
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Pulmonary hypoplasia OMIM:616300
Neu-Laxova Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:2671
Congenital Myopathy 22B, Severe Fetal
Pulmonary hypoplasia, Pleural effusion OMIM:620369
Renal-Hepatic-Pancreatic Dysplasia 1
Neonatal death, Pulmonary hypoplasia OMIM:208540
Raine Syndrome
Neonatal death, Pulmonary hypoplasia OMIM:259775
Stuve-Wiedemann Syndrome 1
Pulmonary hypoplasia, Pulmonary arterial medial hypertrophy, Intrauterine growth retardation OMIM:601559
Fryns Syndrome
Pulmonary hypoplasia ORPHA:2059
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Pulmonary hypoplasia OMIM:614080
Peroxisome Biogenesis Disorder 1A (Zellweger)
Pulmonary hypoplasia OMIM:214100
Pagod Syndrome
Abnormality of the pulmonary artery, Pulmonary hypoplasia, Pulmonary artery hypoplasia ORPHA:991
Absence Of The Pulmonary Artery
Pulmonary edema, Recurrent pneumonia, Pulmonary hypoplasia, Bronchiectasis, Recurrent respiratory... ORPHA:980
Atelosteogenesis Type Ii
Pulmonary hypoplasia ORPHA:56304
Greenberg Dysplasia
Abnormal lung lobation, Stillbirth, Neonatal death, Pulmonary hypoplasia OMIM:215140
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonary hypoplasia, Atelectasis, Repeated pneumothoraces ORPHA:536467
Tarp Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:2886
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Pulmonary hypoplasia OMIM:619351
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:208500
Lethal Congenital Contracture Syndrome 9
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:616503
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Pulmonary hypoplasia OMIM:617925
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Pulmonary hypoplasia OMIM:616546
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery hypoplasia OMIM:620025
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Esophageal Atresia
Bronchitis, Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:1199
Acrorenal-Mandibular Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:200980
Otopalatodigital Syndrome Type 2
Pulmonary hypoplasia ORPHA:90652
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Pulmonary hypoplasia, Pulmonary artery atresia OMIM:620371
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia ORPHA:50945
Multiple Pterygium Syndrome, Escobar Variant
Pulmonary hypoplasia OMIM:265000
Alg9-Cdg
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:79328
Tetraamelia Syndrome 1
Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia OMIM:273395
Joubert Syndrome 21
Pulmonary hypoplasia OMIM:615636
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:263520
Orofaciodigital Syndrome Type 4
Intrauterine growth retardation, Recurrent respiratory infections, Pulmonary hypoplasia, Bilatera... ORPHA:2753
Fetal Akinesia Deformation Sequence 1
Intrauterine growth retardation, Stillbirth, Pulmonary hypoplasia OMIM:208150
Meier-Gorlin Syndrome 7
Pulmonary hypoplasia OMIM:617063
Fryns Syndrome
Chylothorax, Stillbirth, Pulmonary hypoplasia OMIM:229850
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:818
Distal Deletion 15Q
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:1596
Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonary hypoplasia ORPHA:536471
Ogden Syndrome
Pulmonary edema, Pulmonary artery stenosis, Pulmonary hypoplasia, Intrauterine growth retardation... OMIM:300855
Fontaine Progeroid Syndrome
Pneumothorax, Neonatal death, Recurrent aspiration pneumonia, Pulmonary hypoplasia, Intrauterine ... OMIM:612289
Restrictive Dermopathy 1
Intrauterine growth retardation, Stillbirth, Neonatal death, Pulmonary hypoplasia OMIM:275210
Neu-Laxova Syndrome 1
Intrauterine growth retardation, Stillbirth, Neonatal death, Pulmonary hypoplasia OMIM:256520
Autosomal Recessive Polycystic Kidney Disease
Recurrent pneumonia, Pulmonary hypoplasia, Spontaneous pneumothorax ORPHA:731
Dpagt1-Cdg
Pulmonary hypoplasia ORPHA:86309
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:83617
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Intrauterine growth retardation OMIM:270400
Meckel Syndrome, Type 1
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:249000
Cardiac-Urogenital Syndrome
Scimitar anomaly, Pulmonary hypoplasia, Partial anomalous pulmonary venous return OMIM:618280
Penile Agenesis
Pulmonary hypoplasia, Bilateral lung agenesis ORPHA:49
Schinzel-Giedion Syndrome
Recurrent pneumonia, Pulmonary hypoplasia ORPHA:798
Ulbright-Hodes Syndrome
Pneumothorax, Severe intrauterine growth retardation, Pulmonary hypoplasia ORPHA:3404
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary artery stenosis, Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:96334
Osteogenesis Imperfecta
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:666
Restrictive Dermopathy
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:1662
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Cardiac total anomalous pulmonary venou... ORPHA:99125
Tetrasomy 9P
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:3310
Fraser Syndrome 1
Pulmonary hypoplasia OMIM:219000
Fraser Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2052
Genitopatellar Syndrome
Pulmonary hypoplasia OMIM:606170
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Pulmonary hypoplasia ORPHA:93271
Pallister-Killian Syndrome
Stillbirth, Pulmonary hypoplasia OMIM:601803
Craniofacial Microsomia 1
Pulmonary hypoplasia OMIM:164210
Microphthalmia, Syndromic 1
Pulmonary hypoplasia OMIM:309800
Histiocytoma, Angiomatoid Fibrous
OMIM:612160

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 Creb1

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 Creb1.

No publications found that use IMPC mice or data for Creb1.

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MGI Allele Allele Type Produced
Creb1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Creb1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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