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
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida 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
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Wildervanck Syndrome
Meningocele ORPHA:3456
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Humero-Radial Synostosis
Meningocele ORPHA:3265
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida ORPHA:2345
Diaphanospondylodysostosis
Myelomeningocele ORPHA:66637
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... ORPHA:1120
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Triploidy
Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly, Intrauterine g... ORPHA:3376
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele ORPHA:60015
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida occulta, Intrauter... ORPHA:2311
Alg3-Cdg
Neural tube defect, Cardiomyopathy ORPHA:79321
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect OMIM:614424
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Cerebrocostomandibular Syndrome
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intraute... ORPHA:1393
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Lateral Meningocele Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Mening... OMIM:130720
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Ventricular septal defect ORPHA:2789
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Patent du... ORPHA:99776
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Pagod Syndrome
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left heart ORPHA:991
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Trisomy 18
Ventricular septal defect, Spina bifida, Anencephaly, Holoprosencephaly, Atrial septal defect, In... ORPHA:3380
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Occipital meningocele, Hydrocephalus, Anencephaly OMIM:616546
Focal Dermal Hypoplasia
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morpho... ORPHA:2092
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Prolonged G2 phase of cell cycle, Short stature, Cryptorchidism OMIM:227645
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Fanconi Anemia, Complementation Group D2
Short stature, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Prolonged G2 phase of cel... OMIM:227646
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida OMIM:109400
Nail-Patella Syndrome
Spina bifida OMIM:161200
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Stillbirth, Short umbilical co... OMIM:256520
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Fanconi Anemia, Complementation Group E
Cryptorchidism, Prolonged G2 phase of cell cycle, Short stature OMIM:600901
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Fanconi Anemia, Complementation Group A
Cryptorchidism, Prolonged G2 phase of cell cycle, Short stature OMIM:227650
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele ORPHA:2879
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal defect, Perimembranou... ORPHA:508498
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... OMIM:192350
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida OMIM:619480
Orofaciodigital Syndrome Vi
Occipital meningocele, Hypoplastic left heart OMIM:277170
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Hydrocephalus, Meni... ORPHA:567
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Fanconi Anemia
Spina bifida, Hydrocephalus, Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnorm... ORPHA:84
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Jacobsen Syndrome
Ventricular septal defect, Spina bifida, Hypoplastic left heart, Intrauterine growth retardation,... ORPHA:2308
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Atrial septal defect, Atrioven... OMIM:274000
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363958
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta OMIM:267750
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Aicardi Syndrome
Spina bifida OMIM:304050
Campomelic Dysplasia
Hydrocephalus, Abnormal heart morphology, Spina bifida, Spinal dysraphism OMIM:114290
Marfan Syndrome
Mitral valve calcification, Meningocele, Mitral valve prolapse ORPHA:558
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Mitral valve prolapse, Perimem... OMIM:180849
Arima Syndrome
Occipital meningocele OMIM:243910
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Otopalatodigital Syndrome, Type Ii
Spina bifida, Hydrocephalus, Stillbirth, Atrial septal defect, Umbilical hernia OMIM:304120
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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