Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
DEAD/H box helicase 11
Synonyms:
KRG2,  CHL1,  essa15a,  CHLR1,  DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,  4732462I11Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Ddx11 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 Ddx11 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Warsaw Breakage Syndrome
Postnatal growth retardation, Intrauterine growth retardation OMIM:613398

The table below shows human diseases predicted to be associated to Ddx11 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
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Hydrocephalus, Atrial ... OMIM:611134
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... ORPHA:1908
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Wildervanck Syndrome
Meningocele ORPHA:3456
Humero-Radial Synostosis
Meningocele ORPHA:3265
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Cervical myelopathy, Spina bifida OMIM:207950
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect ORPHA:2345
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Bicuspid aortic valve, Atrial se... ORPHA:1120
Diaphanospondylodysostosis
Myelomeningocele ORPHA:66637
Meckel Syndrome, Type 2
Intrauterine growth retardation, Meningocele, Anencephaly, Encephalocele OMIM:603194
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Intellectual Developmental Disorder, Autosomal Dominant 72
Spina bifida OMIM:620439
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Triploidy
Intrauterine growth retardation, Hydrocephalus, Abnormal cardiac septum morphology, Meningocele, ... ORPHA:3376
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Hydrocephalus, Dextrocardia, Spina bifida occulta ORPHA:2437
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Enlarged Parietal Foramina
Myelomeningocele, Occipital encephalocele ORPHA:60015
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Intrauterine growth retardation, Spina bifida occulta, Meningocele, Anomalous p... ORPHA:2311
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Meningocele, Ventricular septal defect OMIM:620511
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Joubert Syndrome 14
Hydrocephalus, Meningocele, Encephalocele, Ventricular septal defect OMIM:614424
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Ventricular septal defect, Sp... ORPHA:1393
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Situs inversus totalis, Hydrocephalus, Dextrocardia, Spina bifida occulta OMIM:613686
Lateral Meningocele Syndrome
Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Hydrocephalus, Meningocele, P... OMIM:130720
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Lateral Meningocele Syndrome
Meningocele, Ventricular septal defect, Umbilical hernia ORPHA:2789
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Iniencephaly
Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Holoprosencephal... ORPHA:63259
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Pelvis-Shoulder Dysplasia
Hydrocephalus, Hydranencephaly, Spina bifida ORPHA:2839
Mosaic Trisomy 9
Abnormal heart valve morphology, Intrauterine growth retardation, Endocardial fibroelastosis, Ven... ORPHA:99776
Limb Body Wall Complex
Myelomeningocele, Abnormal heart morphology, Encephalocele, Short umbilical cord, Ventricular sep... ORPHA:2369
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Aqueductal steno... OMIM:306955
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Pagod Syndrome
Hypoplastic left heart, Situs inversus totalis, Encephalocele, Spina bifida, Meningocele ORPHA:991
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida, Umbilical hernia OMIM:613776
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Intrauterine growth retardation, Spina bifida ORPHA:3412
Trisomy 18
Intrauterine growth retardation, Ventricular septal defect, Spina bifida, Atrial septal defect, H... ORPHA:3380
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Focal Dermal Hypoplasia
Umbilical hernia, Ventricular septal defect, Spina bifida, Abnormal cardiac septum morphology, Pa... ORPHA:2092
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Anencephaly, Hydrocephalus, Occipital meningocele OMIM:616546
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Basal Cell Nevus Syndrome 1
Hydrocephalus, Cardiac rhabdomyoma, Spina bifida, Cardiac fibroma OMIM:109400
Nail-Patella Syndrome
Spina bifida OMIM:161200
Neu-Laxova Syndrome 1
Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Patent fo... OMIM:256520
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Occipital encephalocele ORPHA:397715
Vater/Vacterl Association
Occipital encephalocele, Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal... OMIM:192350
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect... ORPHA:508498
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele ORPHA:2879
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Patent ductus arteriosus, Spina bifida OMIM:619480
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Occipital meningocele OMIM:277170
Fanconi Anemia
Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Intrauterine growth retardati... ORPHA:84
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
22Q11.2 Deletion Syndrome
Umbilical hernia, Tetralogy of Fallot, Intrauterine growth retardation, Abnormal pulmonary valve ... ORPHA:567
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Intrauterine growth retardation, Ventricular septa... ORPHA:2308
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Spina bifida OMIM:162200
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:274000
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
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Hydr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Hydr... ORPHA:363958
Campomelic Dysplasia
Abnormal heart morphology, Hydrocephalus, Spinal dysraphism, Spina bifida OMIM:114290
Aicardi Syndrome
Spina bifida OMIM:304050
Femoral-Facial Syndrome
Encephalocele, Truncus arteriosus, Ventricular septal defect, Spina bifida, Patent ductus arterio... OMIM:134780
Cutis Laxa, Autosomal Recessive, Type Ib
Right ventricular dilatation, Spina bifida, Neonatal death OMIM:614437
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Mitral valve prolapse, Ventricular septal defect, Patent foramen ovale, P... OMIM:180849
Fanconi Anemia, Complementation Group D2
Short stature, Prolonged G2 phase of cell cycle, Patent ductus arteriosus, Hydrocephalus OMIM:227646
Fanconi Anemia, Complementation Group C
Short stature, Prolonged G2 phase of cell cycle, Intrauterine growth retardation OMIM:227645
Arima Syndrome
Occipital meningocele OMIM:243910
Marfan Syndrome
Tricuspid valve prolapse, Meningocele, Mitral valve calcification, Mitral valve prolapse ORPHA:558
Exstrophy-Epispadias Complex
Abnormal heart morphology, Hydrocephalus, Spina bifida ORPHA:322
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Hydrocephalus, Atrial septal defect, Stillbirth, Spina bifida OMIM:304120
Fanconi Anemia, Complementation Group E
Short stature, Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group A
Short stature, Prolonged G2 phase of cell cycle OMIM:227650
Holoprosencephaly 9
Holoprosencephaly, Alobar holoprosencephaly, Occipital meningocele, Hydrocephalus OMIM:610829
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820
Warsaw Breakage Syndrome
Postnatal growth retardation, Intrauterine growth retardation OMIM:613398

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 Ddx11

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 Ddx11.

No publications found that use IMPC mice or data for Ddx11.

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
Ddx11tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ddx11tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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