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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
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Neonatal death, Pulmonary hypoplasia OMIM:615228
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, Pulmonary hypoplasia, Intrauterine growth retardation 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
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Progressive Supranuclear Palsy
Cognitive impairment, Falls, Dementia, Abnormal synaptic transmission, Unsteady gait, Memory impa... ORPHA:683
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Intrauterine growth retardation OMIM:616733
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia, Stillbirth OMIM:617468
Narcolepsy 3
Narcolepsy OMIM:609039
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Pulmonary hypoplasia, Stillbirth OMIM:236500
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia OMIM:616867
Atelosteogenesis, Type Ii
Pulmonary hypoplasia, Stillbirth OMIM:256050
Primary Pulmonary Hypoplasia
Pneumothorax, Pulmonary hypoplasia, Recurrent respiratory infections, Abnormal pulmonary artery m... ORPHA:2257
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Matthew-Wood Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia, Abnormal lung morphology ORPHA:2470
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Pulmonary hypoplasia, Stillbirth OMIM:615415
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Pulmonary hypoplasia, Bilateral lung agenesis, Intrauterine growth ret... OMIM:611812
Thanatophoric Dysplasia
Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:2655
Narcolepsy 1
Narcolepsy OMIM:161400
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:3035
Serkal Syndrome
Pulmonary hypoplasia ORPHA:139466
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia OMIM:241800
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia, Intrauterine growth retardation OMIM:312150
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Pulmonary hypoplasia OMIM:263210
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:994
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia OMIM:300978
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pulmonary hypoplasia OMIM:224410
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia, Intrauterine growth retardation 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
Alg3-Cdg
Pulmonary hypoplasia ORPHA:79321
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:86822
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Pulmonary hypoplasia ORPHA:2847
Thanatophoric Dysplasia, Type I
Neonatal death, Pulmonary hypoplasia OMIM:187600
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Pulmonary hypoplasia OMIM:314390
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pleural effusion, Pulmonary hypoplasia, Intrauterine growth retardation OMIM:616897
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:617895
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Narcolepsy 7
Narcolepsy OMIM:614250
Agnathia-Otocephaly Complex
Pulmonary hypoplasia OMIM:202650
Microcephaly-Micromelia Syndrome
Neonatal death, Pulmonary hypoplasia, Intrauterine growth retardation OMIM:251230
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:96179
Scimitar Syndrome
Pulmonary sequestration, Pneumothorax, Pulmonary hypoplasia, Pulmonary artery hypoplasia, Anomalo... ORPHA:185
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Congenital alveolar dysplasia, Pulmonary hyp... OMIM:608978
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Pulmonary hypoplasia OMIM:231680
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Pulmonary hypoplasia, Stillbirth OMIM:151210
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:958
Marden-Walker Syndrome
Pulmonary hypoplasia, Intrauterine growth retardation OMIM:248700
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Bilateral lung agenesis, Pulmonary hypoplasia, Pulmonary artery at... OMIM:601186
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Pulmonary hypoplasia OMIM:616866
Meckel Syndrome, Type 6
Bilobed right lung, Pulmonary hypoplasia OMIM:612284
Diaphanospondylodysostosis
Pulmonary hypoplasia, Intrauterine growth retardation OMIM:608022
Gaucher Disease, Perinatal Lethal
Neonatal death, Pulmonary hypoplasia, Intrauterine growth retardation OMIM:608013
Lethal Congenital Contracture Syndrome 10
Pulmonary hypoplasia, Intrauterine growth retardation OMIM:617022
Tetrasomy 5P
Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
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
Chromosome 1Q41-Q42 Deletion Syndrome
Pulmonary hypoplasia OMIM:612530
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Aortopulmonary window, Anomalous ... ORPHA:99050
Distal Tetrasomy 15Q
Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:314588
Czeizel-Losonci Syndrome
Pulmonary hypoplasia ORPHA:2437
Teebi Hypertelorism Syndrome 1
Pulmonary hypoplasia OMIM:145420
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:614091
Lethal Congenital Contracture Syndrome 9
Pulmonary hypoplasia, Intrauterine growth retardation OMIM:616503
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:615503
Acrocephalopolydactylous Dysplasia
Extrapulmonary sequestrum, Pulmonary hypoplasia OMIM:200995
Renal Agenesis, Bilateral
Pulmonary hypoplasia ORPHA:1848
Congenital Tracheomalacia
Pneumothorax, Bronchiectasis, Pulmonary hypoplasia, Emphysema, Recurrent upper respiratory tract ... ORPHA:95430
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Pulmonary hypoplasia, Bronchiectasis OMIM:619708
Atelosteogenesis Type I
Pulmonary hypoplasia ORPHA:1190
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia ORPHA:1865
Achondrogenesis, Type Ia
Pulmonary hypoplasia, Stillbirth 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
Thoracoabdominal Syndrome
Pulmonary hypoplasia OMIM:313850
Oligomeganephronia
Pulmonary hypoplasia, Pulmonary venous occlusion ORPHA:2260
Short-Rib Thoracic Dysplasia 12
Neonatal death, Pulmonary hypoplasia, Atelectasis, Intrauterine growth retardation OMIM:269860
Mosaic Trisomy 16
Intrauterine growth retardation, Pulmonary hypoplasia, Abnormal lung morphology ORPHA:1708
Genitopatellar Syndrome
Pulmonary hypoplasia ORPHA:85201
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonary hypoplasia OMIM:619148
Autosomal Recessive Multiple Pterygium Syndrome
Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:2990
Mosaic Trisomy 1
Pulmonary artery atresia, Pulmonary hypoplasia ORPHA:1692
Joubert Syndrome 21
Pulmonary hypoplasia OMIM:615636
Pentalogy Of Cantrell
Pulmonary hypoplasia ORPHA:1335
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary edema, Abnormal lung lob... ORPHA:3384
Cutis Laxa, Autosomal Recessive, Type Ic
Pulmonary hypoplasia, Emphysema, Recurrent pneumonia, Peripheral pulmonary artery stenosis, Atele... OMIM:613177
Achondroplasia
Pulmonary hypoplasia OMIM:100800
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Mild intrauterine growth retardation, Pulmonary hypoplasia, Stillbirth OMIM:308050
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Pulmonary hypoplasia OMIM:616546
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Pulmonary hypoplasia, Stillbirth OMIM:616300
Neu-Laxova Syndrome
Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:2671
Vacterl With Hydrocephalus
Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:3412
Renal-Hepatic-Pancreatic Dysplasia 1
Neonatal death, Pulmonary hypoplasia OMIM:208540
Raine Syndrome
Neonatal death, Pulmonary hypoplasia OMIM:259775
Fryns Syndrome
Pulmonary hypoplasia ORPHA:2059
Pagod Syndrome
Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Pulmonary hypoplasia ORPHA:991
Peroxisome Biogenesis Disorder 1A (Zellweger)
Pulmonary hypoplasia OMIM:214100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Pulmonary hypoplasia OMIM:614080
Tarp Syndrome
Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:2886
Atelosteogenesis Type Ii
Pulmonary hypoplasia ORPHA:56304
Greenberg Dysplasia
Neonatal death, Abnormal lung lobation, Pulmonary hypoplasia, Stillbirth OMIM:215140
Absence Of The Pulmonary Artery
Pulmonary edema, Bronchiectasis, Pulmonary hypoplasia, Recurrent pneumonia, Recurrent respiratory... ORPHA:980
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Stuve-Wiedemann Syndrome 1
Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia OMIM:601559
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:208500
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Pulmonary hypoplasia OMIM:619351
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Pulmonary hypoplasia OMIM:617925
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Pulmonary hypoplasia, Atelectasis ORPHA:536467
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Pulmonary hypoplasia, Aortopulmonary window OMIM:620025
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Otopalatodigital Syndrome Type 2
Pulmonary hypoplasia ORPHA:90652
Acrorenal-Mandibular Syndrome
Pulmonary hypoplasia, Intrauterine growth retardation OMIM:200980
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Esophageal Atresia
Bronchitis, Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:1199
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia ORPHA:50945
Alg9-Cdg
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:79328
Multiple Pterygium Syndrome, Escobar Variant
Pulmonary hypoplasia OMIM:265000
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:263520
Meier-Gorlin Syndrome 7
Pulmonary hypoplasia OMIM:617063
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Pulmonary hypoplasia, Bilateral lung agenesis, Intrauterine gro... ORPHA:2753
Fetal Akinesia Deformation Sequence 1
Pulmonary hypoplasia, Stillbirth, Intrauterine growth retardation OMIM:208150
Fryns Syndrome
Pulmonary hypoplasia, Stillbirth, Chylothorax OMIM:229850
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:818
Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonary hypoplasia ORPHA:536471
Ogden Syndrome
Pulmonary edema, Pulmonary hypoplasia, Pulmonary artery stenosis, Peripheral pulmonary artery ste... OMIM:300855
Fontaine Progeroid Syndrome
Pneumothorax, Recurrent aspiration pneumonia, Pulmonary hypoplasia, Neonatal death, Intrauterine ... OMIM:612289
Restrictive Dermopathy 1
Neonatal death, Pulmonary hypoplasia, Stillbirth, Intrauterine growth retardation OMIM:275210
Distal Monosomy 15Q
Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:1596
Neu-Laxova Syndrome 1
Neonatal death, Pulmonary hypoplasia, Stillbirth, Intrauterine growth retardation OMIM:256520
Meckel Syndrome, Type 1
Pulmonary hypoplasia, Intrauterine growth retardation OMIM:249000
Autosomal Recessive Polycystic Kidney Disease
Recurrent pneumonia, Spontaneous pneumothorax, Pulmonary hypoplasia ORPHA:731
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Intrauterine growth retardation OMIM:270400
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:83617
Dpagt1-Cdg
Pulmonary hypoplasia ORPHA:86309
Penile Agenesis
Pulmonary hypoplasia, Bilateral lung agenesis ORPHA:49
Schinzel-Giedion Syndrome
Recurrent pneumonia, Pulmonary hypoplasia ORPHA:798
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary hypoplasia, Pulmonary artery stenosis, Intrauterine growth retardation ORPHA:96334
Ulbright-Hodes Syndrome
Pneumothorax, Pulmonary hypoplasia, Severe intrauterine growth retardation ORPHA:3404
Osteogenesis Imperfecta
Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:666
Cardiac-Urogenital Syndrome
Partial anomalous pulmonary venous return, Scimitar anomaly, Pulmonary hypoplasia OMIM:618280
Restrictive Dermopathy
Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:1662
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Infracardiac total anomalous pulmonary venou... ORPHA:99125
Fraser Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2052
Tetrasomy 9P
Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:3310
Fraser Syndrome 1
Pulmonary hypoplasia OMIM:219000
Genitopatellar Syndrome
Pulmonary hypoplasia OMIM:606170
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Pulmonary hypoplasia ORPHA:93271
Pallister-Killian Syndrome
Pulmonary hypoplasia, Stillbirth OMIM:601803
Craniofacial Microsomia
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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