banner
Genes Phenotypes Help, News, Blog

Gene: Usp9x MGI:894681

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ubiquitin specific peptidase 9, X chromosome
Synonyms:
Fafl,  Dffrx,  5730589N07Rik

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 Usp9x 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 Usp9x by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked 99
Intrauterine growth retardation OMIM:300919
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Patent ductus arteriosus OMIM:300968
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus ORPHA:480880

The table below shows human diseases predicted to be associated to Usp9x 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
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida ORPHA:2476
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Wildervanck Syndrome
Meningocele ORPHA:3456
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
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
Humero-Radial Synostosis
Meningocele ORPHA:3265
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida ORPHA:2345
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Triploidy
Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly, Intrauterine g... ORPHA:3376
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
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Cerebrocostomandibular Syndrome
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intraute... ORPHA:1393
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida occulta, Intrauter... ORPHA:2311
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect OMIM:614424
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Patent du... ORPHA:99776
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Lateral Meningocele Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Mening... OMIM:130720
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Ventricular septal defect ORPHA:2789
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Pagod Syndrome
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left heart ORPHA:991
Trisomy 18
Ventricular septal defect, Spina bifida, Anencephaly, Holoprosencephaly, Atrial septal defect, In... ORPHA:3380
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
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
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Focal Dermal Hypoplasia
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morpho... ORPHA:2092
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Occipital meningocele, Hydrocephalus, Anencephaly OMIM:616546
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida OMIM:109400
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Hydrocephalus, Meni... ORPHA:567
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal defect, Perimembranou... ORPHA:508498
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Nail-Patella Syndrome
Spina bifida OMIM:161200
Fanconi Anemia
Spina bifida, Hydrocephalus, Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnorm... ORPHA:84
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Atrial septal defect, Atrioven... OMIM:274000
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... OMIM:192350
Jacobsen Syndrome
Ventricular septal defect, Spina bifida, Hypoplastic left heart, Intrauterine growth retardation,... ORPHA:2308
Orofaciodigital Syndrome Vi
Occipital meningocele, Hypoplastic left heart OMIM:277170
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
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Short umbilical cord, Small pl... OMIM:256520
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele ORPHA:2879
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida OMIM:619480
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Mitral valve prolapse, Perimem... OMIM:180849
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Campomelic Dysplasia
Hydrocephalus, Abnormal heart morphology, Spina bifida, Spinal dysraphism OMIM:114290
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta OMIM:267750
Aicardi Syndrome
Spina bifida OMIM:304050
Marfan Syndrome
Mitral valve calcification, Meningocele, Mitral valve prolapse ORPHA:558
Arima Syndrome
Occipital meningocele OMIM:243910
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Otopalatodigital Syndrome, Type Ii
Atrial septal defect, Umbilical hernia, Hydrocephalus, Spina bifida OMIM:304120
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820
Intellectual Developmental Disorder, X-Linked 99
Intrauterine growth retardation OMIM:300919
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Patent ductus arteriosus OMIM:300968
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus ORPHA:480880

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 Usp9x

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 Usp9x.

No publications found that use IMPC mice or data for Usp9x.

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
Usp9xtm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Usp9xtm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter