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Gene: Csde1 MGI:92356

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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:
cold shock domain containing E1, RNA binding
Synonyms:
D3Jfr1,  unr

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 Csde1 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 Csde1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Small hypothenar eminence, Mitral valve prolapse, Spina bifida, Sm... OMIM:211960
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... OMIM:612158
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... OMIM:601493
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615396
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... OMIM:252011
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia, Camptodactyly of finger ORPHA:1759
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... ORPHA:1908
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615373
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Atrial septal defect, ... OMIM:611134
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Hemihyperplasia, Isolated
Myelomeningocele, Skeletal muscle hypertrophy OMIM:235000
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Spina bifida, Ventricular septal defect ORPHA:2345
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal aortic valve morphology,... ORPHA:1120
Schisis Association
Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Limb muscle weakness, Hydrocephalus, Spina bifida OMIM:207950
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus OMIM:616501
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus, Myopathy ORPHA:588
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Wildervanck Syndrome
Meningocele, Facial palsy ORPHA:3456
Triploidy
Intrauterine growth retardation, Hydrocephalus, Abnormal cardiac septum morphology, Macroglossia,... ORPHA:3376
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Camptodactyly of finger, Intrauterine growth retardation, Congenital diaphragma... ORPHA:2311
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Intrauterine growth retardation, Spina bifida, Scapular winging, Short s... ORPHA:1327
Meckel Syndrome, Type 2
Intrauterine growth retardation, Meningocele, Anencephaly, Encephalocele OMIM:603194
Atrial Standstill
Muscular dystrophy, Skeletal muscle atrophy, Cardiomyopathy, Left ventricular noncompaction, Abno... ORPHA:1344
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Spina bifida, Dextrocardia, Spina bifida occulta, Posterolateral... ORPHA:2437
Intellectual Developmental Disorder, Autosomal Dominant 72
Facial hypotonia, Spina bifida OMIM:620439
Acropectorovertebral Dysplasia
Spina bifida, Camptodactyly of finger ORPHA:957
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Alg3-Cdg
Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita, Neural tube defect ORPHA:79321
Humero-Radial Synostosis
Meningocele ORPHA:3265
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Neonatal death, Lef... OMIM:619167
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenital diaphragmatic... ORPHA:63260
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Ventricular septal defect, Sp... ORPHA:1393
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Growth delay OMIM:614424
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Meningocele, Ventricular septal defect OMIM:620511
Cardiomyopathy, Dilated, 1D
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:601494
Lateral Meningocele Syndrome
Decreased muscle mass, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Hydroc... OMIM:130720
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Mosaic Trisomy 9
Camptodactyly of finger, Abnormal heart valve morphology, Intrauterine growth retardation, Endoca... ORPHA:99776
Limb Body Wall Complex
Myelomeningocele, Abnormal heart morphology, Diastasis recti, Encephalocele, Short umbilical cord... ORPHA:2369
Fountain Syndrome
Short stature, Spina bifida occulta, Spina bifida ORPHA:3219
Pelvis-Shoulder Dysplasia
Hydranencephaly, Camptodactyly of finger, Mesomelic/rhizomelic limb shortening, Neonatal short-tr... ORPHA:2839
Lateral Meningocele Syndrome
Meningocele, Ventricular septal defect, Umbilical hernia ORPHA:2789
Amish Lethal Microcephaly
Limb hypertonia, Spina bifida ORPHA:99742
Sick Sinus Syndrome 2
Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse OMIM:163800
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Iniencephaly
Rhizomelia, Spinal dysraphism, Arthrogryposis multiplex congenita, Myelomeningocele, Encephalocel... ORPHA:63259
Trisomy 18
Growth delay, Camptodactyly of finger, Intrauterine growth retardation, Congenital diaphragmatic ... ORPHA:3380
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Meningocele ORPHA:2031
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Aqueductal steno... OMIM:306955
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial cardiac fibrosis, Bicuspid a... OMIM:613426
Pagod Syndrome
Hypoplastic left heart, Situs inversus totalis, Encephalocele, Congenital diaphragmatic hernia, S... ORPHA:991
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Elbow flexion contracture, Knee flexion contracture, Hydrocephalus, Spina bifid... OMIM:613776
Neu-Laxova Syndrome 1
Hydranencephaly, Joint contracture of the hand, Small placenta, Intrauterine growth retardation, ... OMIM:256520
Focal Dermal Hypoplasia
Umbilical hernia, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic hernia, Vent... ORPHA:2092
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Long Qt Syndrome 15
Left ventricular noncompaction OMIM:616249
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Neu-Laxova Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2671
Fanconi Anemia
Abnormality of chromosome stability, Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy of ... ORPHA:84
Nail-Patella Syndrome
Triceps aplasia, Quadriceps aplasia, Biceps aplasia, Absence of pectoralis minor muscle, Spina bi... OMIM:161200
Trisomy 20P
Spina bifida, Camptodactyly of finger, Umbilical hernia ORPHA:261318
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Congenital diaphragmatic hernia, Hydrocephalus, Atrial septal defect, Anen... OMIM:616546
Vater/Vacterl Association
Occipital encephalocele, Tetralogy of Fallot, Postnatal growth retardation, Intrauterine growth r... OMIM:192350
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Intrauterine growth retardation, Spina bifida ORPHA:3412
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect... ORPHA:508498
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Spina bifida ORPHA:2874
Basal Cell Nevus Syndrome 1
Hydrocephalus, Cardiac rhabdomyoma, Spina bifida, Cardiac fibroma OMIM:109400
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Right ventricular ... OMIM:300967
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic arm shortening, Rhizomelic leg shortening, Short stature, Men... ORPHA:397715
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Intrauterine growth retardation, Ventricular septa... ORPHA:2308
22Q11.2 Deletion Syndrome
Umbilical hernia, Tetralogy of Fallot, Intrauterine growth retardation, Abnormal pulmonary valve ... ORPHA:567
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Occipital meningocele, Short stature OMIM:277170
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Postnatal growth retardation, Hand muscle atrophy, Ven... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Postnatal growth retardation, Hand muscle atrophy, Ven... ORPHA:363958
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:274000
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele, Disproportionate short stature ORPHA:2879
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Spina bifida, Torticollis, Unilateral facial palsy, Patent ductus ... OMIM:619480
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Hallermann-Streiff Syndrome
Spina bifida, Proportionate short stature OMIM:234100
Campomelic Dysplasia
Neonatal short-limb short stature, Spinal dysraphism, Disproportionate short-limb short stature, ... OMIM:114290
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Postnatal growth retardation, Mitral valve prolapse, Ventricular septal d... OMIM:180849
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Hypoplasia of the diaphragm, Neonatal death, Spina bifida, Right... OMIM:614437
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Short stature, Aqueductal stenosis, Rhabdomyosarcoma OMIM:162200
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele, Flexion contracture of finger ORPHA:1010
Femoral-Facial Syndrome
Camptodactyly of finger, Encephalocele, Truncus arteriosus, Ventricular septal defect, Spina bifi... OMIM:134780
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Elbow contracture, Postnatal growth retardation, Atrial septal defect, Spina bi... OMIM:304120
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele OMIM:267750
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
Aicardi Syndrome
Postnatal growth retardation, Spina bifida OMIM:304050
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve prolapse, Tricuspid valve prolapse, Mitral valve calcificat... ORPHA:558
Arima Syndrome
Occipital meningocele, Growth delay OMIM:243910
Exstrophy-Epispadias Complex
Abnormal heart morphology, Hydrocephalus, Spina bifida ORPHA:322
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Short stature, Holoprosencephaly, Occipital meningocele OMIM:610829
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Elbow flexion contracture, Disproportionate short stature, Occipital meningocele OMIM:276820

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 Csde1

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 Csde1.

No publications found that use IMPC mice or data for Csde1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Csde1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Csde1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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