Not currently registered for phenotyping at IMPC

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

Gene Summary

cold shock domain containing E1, RNA binding
D3Jfr1,  unr

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... 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
Small hypothenar eminence, Spina bifida, Mitral valve prolapse, Small thenar eminence, Camptodact... OMIM:211960
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida ORPHA:2476
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Short stature, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventri... OMIM:252011
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... ORPHA:1908
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615373
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy, Myelomeningocele OMIM:235000
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida ORPHA:2345
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, Patent ductus arteriosus, A... ORPHA:1120
Schisis Association
Encephalocele, Congenital diaphragmatic hernia, Anencephaly, Spina bifida ORPHA:63862
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Limb muscle weakness OMIM:207950
Wildervanck Syndrome
Meningocele, Facial palsy ORPHA:3456
Muscle-Eye-Brain Disease
Myopathy, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:616501
Hydrocephalus, Meningocele, Macroglossia, Abnormal cardiac septum morphology, Holoprosencephaly, ... ORPHA:3376
Autosomal Recessive Spondylocostal Dysostosis
Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Meningocele, Anomalous p... ORPHA:2311
Camptodactyly Syndrome, Guadalajara Type 1
Scapular winging, Short stature, Camptodactyly of finger, Spina bifida, Intrauterine growth retar... ORPHA:1327
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus,... ORPHA:2437
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida ORPHA:957
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven... ORPHA:1344
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Humero-Radial Synostosis
Meningocele ORPHA:3265
Macroglossia, Neural tube defect, Arthrogryposis multiplex congenita, Cardiomyopathy ORPHA:79321
Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomeli... ORPHA:63260
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventricular hypertro... OMIM:619167
Cerebrocostomandibular Syndrome
Ventricular septal defect, Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranence... ORPHA:1393
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Growth delay OMIM:614424
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Lateral Meningocele Syndrome
Decreased muscle mass, Bicuspid aortic valve, Ventricular septal defect, Short stature, Hydroceph... OMIM:130720
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Camptodac... ORPHA:99776
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic... ORPHA:2369
Fountain Syndrome
Spina bifida occulta, Short stature, Spina bifida ORPHA:3219
Pelvis-Shoulder Dysplasia
Short stature, Camptodactyly of finger, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydro... ORPHA:2839
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Ventricular septal defect ORPHA:2789
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Encephalocele, Rhizomelia, Spina bifida, Congenital diaphragmatic hernia, Myelomeningocele, Hydro... ORPHA:63259
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Spina bifida... ORPHA:3380
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Short stature ORPHA:2031
Amish Lethal Microcephaly
Spina bifida, Limb hypertonia ORPHA:99742
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Spina bifida, Sirenomelia ORPHA:3169
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra... OMIM:613426
Pagod Syndrome
Encephalocele, Short stature, Congenital diaphragmatic hernia, Spina bifida, Situs inversus total... ORPHA:991
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Stillbirth, Short umbilical co... OMIM:256520
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture, Generalized amy... OMIM:613776
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Focal Dermal Hypoplasia
Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Spina bifida, Campto... ORPHA:2092
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Long Qt Syndrome 15
Left ventricular noncompaction OMIM:616249
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Neu-Laxova Syndrome
Skeletal muscle atrophy, Spina bifida, Flexion contracture, Muscular dystrophy, Intrauterine grow... ORPHA:2671
Nail-Patella Syndrome
Biceps aplasia, Short stature, Spina bifida, Absence of pectoralis minor muscle, Triceps aplasia,... OMIM:161200
Fanconi Anemia
Abnormality of chromosome stability, Short stature, Spina bifida, Hydrocephalus, Patent ductus ar... ORPHA:84
Trisomy 20P
Umbilical hernia, Camptodactyly of finger, Spina bifida ORPHA:261318
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Atrial septal defect, Occipital meni... OMIM:616546
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Facial palsy, Spina bifida, Truncus arteriosus, Ventricular septal defect,... ORPHA:508498
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, P... OMIM:192350
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Short stature, Hydr... ORPHA:567
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Spina bifida ORPHA:2874
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida OMIM:109400
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Short stature, Rhizomelic leg shortening, Meningocele, Rhizomelic arm sh... ORPHA:397715
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Intrauterine growth retardation, Meningocele ORPHA:46059
Jacobsen Syndrome
Ventricular septal defect, Short stature, Spina bifida, Growth delay, Hypoplastic left heart, Int... ORPHA:2308
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Orofaciodigital Syndrome Vi
Occipital meningocele, Hypoplastic left heart, Short stature OMIM:277170
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Shoulder muscle hypoplasia, Spina bifida, Short stature, Patent ductus... OMIM:274000
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Spina bifida, Patent ductus arteriosus, Unilateral facial palsy, Atrioventricular ca... OMIM:619480
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal gr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal gr... ORPHA:363958
Phocomelia, Schinzel Type
Intrauterine growth retardation, Disproportionate short stature, Meningocele ORPHA:2879
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Hallermann-Streiff Syndrome
Proportionate short stature, Spina bifida OMIM:234100
Neurofibromatosis, Type I
Short stature, Rhabdomyosarcoma, Spina bifida, Aqueductal stenosis, Hydrocephalus OMIM:162200
Campomelic Dysplasia
Spina bifida, Contracture of the distal interphalangeal joint of the fingers, Hydrocephalus, Abno... OMIM:114290
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Short stature, Spina bifida, Postnatal growth retardation, Patent duct... OMIM:180849
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Flexion contracture of finger, Meningocele ORPHA:1010
Otopalatodigital Syndrome, Type Ii
Short stature, Elbow contracture, Spina bifida, Postnatal growth retardation, Hydrocephalus, Stil... OMIM:304120
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Meningocele, Mitral valve prolapse ORPHA:558
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Distal... ORPHA:573278
Aicardi Syndrome
Postnatal growth retardation, Spina bifida OMIM:304050
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta OMIM:267750
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Arima Syndrome
Growth delay, Occipital meningocele OMIM:243910
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Disproportionate short stature, Elbow flexion contracture OMIM:276820


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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