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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

Order Alleles

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
Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia OMIM:619003
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Pulmonary hypoplasia OMIM:614096
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
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
Progressive Supranuclear Palsy
Unsteady gait, Abnormal synaptic transmission, Bradykinesia, Dementia, Falls, Cognitive impairmen... ORPHA:683
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:616733
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
Atelosteogenesis, Type Ii
Stillbirth, Pulmonary hypoplasia OMIM:256050
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Pneumothorax, Abnormal pulmonary artery morphology, Pulmonary h... ORPHA:2257
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Stillbirth, Pulmonary hypoplasia OMIM:236500
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Matthew-Wood Syndrome
Intrauterine growth retardation, Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:3035
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Abnormal lung lobation, 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
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Pulmonary hypoplasia OMIM:263210
Multiple Pterygium Syndrome, X-Linked
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:312150
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
Nephronophthisis 2
Pulmonary hypoplasia OMIM:602088
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary artery atresia, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:618316
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Intrauterine growth retardation, Pleural effusion, Pulmonary hypoplasia OMIM:616897
Alg3-Cdg
Pulmonary hypoplasia ORPHA:79321
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:86822
Pericardial And Diaphragmatic Defect
Pulmonary hypoplasia, Pulmonary sequestration ORPHA:2847
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Pulmonary hypoplasia OMIM:314390
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Bilateral lung agenesis, Pulmonary h... OMIM:601186
Thanatophoric Dysplasia, Type I
Neonatal death, Pulmonary hypoplasia OMIM:187600
Agnathia-Otocephaly Complex
Pulmonary hypoplasia OMIM:202650
Microcephaly-Micromelia Syndrome
Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia OMIM:251230
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:617895
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Scimitar Syndrome
Recurrent respiratory infections, Abnormal lung morphology, Partial anomalous pulmonary venous re... ORPHA:185
Maternal Uniparental Disomy Of Chromosome 2
Intrauterine growth retardation, Respiratory infections in early life, Pulmonary hypoplasia ORPHA:96179
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Pulmonary hypoplasia OMIM:231680
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Pulmonary hypoplasia OMIM:151210
Marden-Walker Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:248700
Meacham Syndrome
Partial anomalous pulmonary venous return, Cardiac total anomalous pulmonary venous connection, S... OMIM:608978
Acro-Renal-Mandibular Syndrome
Intrauterine growth retardation, Abnormal lung lobation, Pulmonary hypoplasia ORPHA:958
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia OMIM:620306
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Pulmonary hypoplasia OMIM:616866
Diaphanospondylodysostosis
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:608022
Meckel Syndrome, Type 6
Bilobed right lung, Pulmonary hypoplasia OMIM:612284
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:617022
Gaucher Disease, Perinatal Lethal
Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia OMIM:608013
Teebi Hypertelorism Syndrome 1
Pulmonary hypoplasia OMIM:145420
Tetrasomy 5P
Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
Kagami-Ogata Syndrome
Pulmonary hypoplasia OMIM:608149
Caudal Regression Syndrome
Pulmonary hypoplasia ORPHA:3027
Distal Triplication 15Q
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:314588
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Pulmonary hypoplasia OMIM:263200
Czeizel-Losonci Syndrome
Pulmonary hypoplasia ORPHA:2437
Chromosome 1Q41-Q42 Deletion Syndrome
Pulmonary hypoplasia OMIM:612530
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery a... ORPHA:99050
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:614091
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:615503
Acrocephalopolydactylous Dysplasia
Pulmonary hypoplasia, Extrapulmonary sequestrum OMIM:200995
Renal Agenesis, Bilateral
Pulmonary hypoplasia ORPHA:1848
Atelosteogenesis Type I
Pulmonary hypoplasia ORPHA:1190
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis OMIM:619708
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia ORPHA:1865
Congenital Tracheomalacia
Pneumonia, Pneumothorax, Partial anomalous pulmonary venous return, Bronchiectasis, Recurrent upp... ORPHA:95430
Achondrogenesis, Type Ia
Stillbirth, Pulmonary hypoplasia OMIM:200600
Renal Agenesis
Pulmonary hypoplasia ORPHA:411709
Congenital Myopathy 17
Respiratory tract infection, Pulmonary hypoplasia OMIM:618975
Meckel Syndrome 14
Pneumothorax, Pulmonary hypoplasia OMIM:619879
Oligomeganephronia
Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Thoracoabdominal Syndrome
Pulmonary hypoplasia OMIM:313850
Mosaic Trisomy 16
Intrauterine growth retardation, Abnormal lung morphology, Pulmonary hypoplasia ORPHA:1708
Short-Rib Thoracic Dysplasia 12
Neonatal death, Atelectasis, Pulmonary hypoplasia, Intrauterine growth retardation OMIM:269860
Genitopatellar Syndrome
Pulmonary hypoplasia ORPHA:85201
Autosomal Recessive Multiple Pterygium Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:2990
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonary hypoplasia OMIM:619148
Mosaic Trisomy 1
Pulmonary artery atresia, Pulmonary hypoplasia ORPHA:1692
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Abnorma... ORPHA:3384
Pentalogy Of Cantrell
Pulmonary hypoplasia ORPHA:1335
Vacterl With Hydrocephalus
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:3412
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Mild intrauterine growth retardation, Stillbirth, Pulmonary hypoplasia OMIM:308050
Cutis Laxa, Autosomal Recessive, Type Ic
Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Emphysema, Peripheral pulmonary artery st... OMIM:613177
Achondroplasia
Pulmonary hypoplasia OMIM:100800
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Pulmonary hypoplasia OMIM:616300
Renal-Hepatic-Pancreatic Dysplasia 1
Neonatal death, Pulmonary hypoplasia OMIM:208540
Neu-Laxova Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:2671
Congenital Myopathy 22B, Severe Fetal
Pleural effusion, Pulmonary hypoplasia OMIM:620369
Raine Syndrome
Neonatal death, Pulmonary hypoplasia OMIM:259775
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
Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Pulmonary hypoplasia ORPHA:991
Greenberg Dysplasia
Neonatal death, Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia OMIM:215140
Atelosteogenesis Type Ii
Pulmonary hypoplasia ORPHA:56304
Stuve-Wiedemann Syndrome 1
Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia OMIM:601559
Tarp Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:2886
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pulmonary hypoplasia, Pulm... ORPHA:980
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
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces ORPHA:536467
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
Pulmonary artery hypoplasia, Pulmonary hypoplasia, Aortopulmonary window OMIM:620025
Acrorenal-Mandibular Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:200980
Otopalatodigital Syndrome Type 2
Pulmonary hypoplasia ORPHA:90652
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Esophageal Atresia
Recurrent respiratory infections, Pulmonary hypoplasia, Bronchitis ORPHA:1199
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
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
Joubert Syndrome 21
Pulmonary hypoplasia OMIM:615636
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:263520
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
Orofaciodigital Syndrome Type 4
Bilateral lung agenesis, Recurrent respiratory infections, Pulmonary hypoplasia, Intrauterine gro... ORPHA:2753
Restrictive Dermopathy 1
Neonatal death, Intrauterine growth retardation, Stillbirth, Pulmonary hypoplasia OMIM:275210
Smith-Lemli-Opitz Syndrome
Intrauterine growth retardation, Abnormal lung lobation, Pulmonary hypoplasia ORPHA:818
Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonary hypoplasia ORPHA:536471
Ogden Syndrome
Pulmonary artery stenosis, Pulmonary hypoplasia, Intrauterine growth retardation, Peripheral pulm... OMIM:300855
Fontaine Progeroid Syndrome
Pneumothorax, Pulmonary hypoplasia, Neonatal death, Intrauterine growth retardation, Recurrent as... OMIM:612289
Distal Deletion 15Q
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:1596
Neu-Laxova Syndrome 1
Neonatal death, Intrauterine growth retardation, Stillbirth, Pulmonary hypoplasia OMIM:256520
Meckel Syndrome, Type 1
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:249000
Autosomal Recessive Polycystic Kidney Disease
Recurrent pneumonia, Spontaneous pneumothorax, Pulmonary hypoplasia ORPHA:731
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:83617
Smith-Lemli-Opitz Syndrome
Intrauterine growth retardation, Abnormal lung lobation, Pulmonary hypoplasia OMIM:270400
Dpagt1-Cdg
Pulmonary hypoplasia ORPHA:86309
Penile Agenesis
Bilateral lung agenesis, Pulmonary hypoplasia ORPHA:49
Cardiac-Urogenital Syndrome
Scimitar anomaly, Partial anomalous pulmonary venous return, Pulmonary hypoplasia OMIM:618280
Schinzel-Giedion Syndrome
Recurrent pneumonia, Pulmonary hypoplasia ORPHA:798
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Intrauterine growth retardation, Pulmonary artery stenosis, Pulmonary hypoplasia ORPHA:96334
Ulbright-Hodes Syndrome
Severe intrauterine growth retardation, Pneumothorax, Pulmonary hypoplasia ORPHA:3404
Osteogenesis Imperfecta
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:666
Restrictive Dermopathy
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:1662
Tetrasomy 9P
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:3310
Fraser Syndrome 1
Pulmonary hypoplasia OMIM:219000
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Pulmonary artery stenosis, Supracardiac total anomalous pulmona... ORPHA:99125
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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