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
Patent ductus arteriosus, Atrial septal defect OMIM:300968
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Patent ductus arteriosus, Atrial septal defect, Cardiomyopathy ORPHA:480880
X-Linked Non-Syndromic Intellectual Disability
ORPHA:777

The table below shows human diseases predicted to be associated to Usp9x by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart ORPHA:2476
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus ORPHA:1931
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Schisis Association
Encephalocele, Spina bifida, Anencephaly ORPHA:63862
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Spina bifida, Cervical myelopathy OMIM:207950
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... ORPHA:1120
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida ORPHA:2345
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Intrauterine growth retardation ORPHA:1327
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Spina bifida occulta, Dextrocardia, Spina bifida ORPHA:2437
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Cerebrocostomandibular Syndrome
Myelomeningocele, Hydranencephaly, Ventricular septal defect, Meningocele, Spina bifida, Intraute... ORPHA:1393
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida OMIM:600122
Fountain Syndrome
Spina bifida, Spina bifida occulta ORPHA:3219
Waardenburg Syndrome Type 1
Spina bifida, Meningocele ORPHA:894
Mosaic Trisomy 9
Atrial septal defect, Endocardial fibroelastosis, Ventricular septal defect, Dextrocardia, Patent... ORPHA:99776
Iniencephaly
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Encephalocele... ORPHA:63259
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele ORPHA:268810
Limb Body Wall Complex
Myelomeningocele, Hydrocephalus, Atrial septal defect, Short umbilical cord, Anencephaly, Spina b... ORPHA:2369
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Hydranencephaly ORPHA:2839
Neu-Laxova Syndrome 2
Spina bifida, Intrauterine growth retardation OMIM:616038
Pagod Syndrome
Hypoplastic left heart, Situs inversus totalis, Meningocele, Encephalocele, Spina bifida ORPHA:991
Trisomy 18
Atrial septal defect, Holoprosencephaly, Anencephaly, Ventricular septal defect, Spina bifida, In... ORPHA:3380
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Spina bifida, Intrauterine growth retardation ORPHA:3412
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Focal Dermal Hypoplasia
Abnormal cardiac septum morphology, Ventricular septal defect, Patent ductus arteriosus, Umbilica... ORPHA:2092
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
22Q11.2 Deletion Syndrome
Tricuspid atresia, Abnormal pulmonary valve morphology, Hydrocephalus, Atrial septal defect, Abno... ORPHA:567
Basal Cell Nevus Syndrome
Cardiac fibroma, Spina bifida, Cardiac rhabdomyoma, Hydrocephalus OMIM:109400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Tetralogy of Fallot, Ventricular septal def... ORPHA:508498
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Neu-Laxova Syndrome
Spina bifida, Intrauterine growth retardation ORPHA:2671
Neu-Laxova Syndrome 1
Short umbilical cord, Hydranencephaly, Ventricular septal defect, Small placenta, Patent ductus a... OMIM:256520
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Nail-Patella Syndrome
Spina bifida OMIM:161200
Fanconi Anemia
Abnormal cardiac septum morphology, Hydrocephalus, Atrial septal defect, Abnormal aortic valve mo... ORPHA:84
Thrombocytopenia-Absent Radius Syndrome
Atrial septal defect, Atrioventricular canal defect, Tetralogy of Fallot, Ventricular septal defe... OMIM:274000
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Ventricular septal defect, Spina bifida, Intrauter... ORPHA:2308
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Hydrocephalus, Atrial septal defect, Pulmonic stenosis, Ventricular septal... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Hydrocephalus, Atrial septal defect, Pulmonic stenosis, Ventricular septal... ORPHA:363958
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Vater/Vacterl Association
Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Patent ductus ar... OMIM:192350
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Patent ductus arteriosus, Atrioventricular canal defect OMIM:619480
Rubinstein-Taybi Syndrome 1
Atrial septal defect, Hypoplastic left heart, Spina bifida occulta, Ventricular septal defect, Mi... OMIM:180849
Campomelic Dysplasia
Spinal dysraphism, Spina bifida, Hydrocephalus, Abnormal heart morphology OMIM:114290
Neurofibromatosis, Type I
Hydrocephalus, Spina bifida, Aqueductal stenosis OMIM:162200
Aicardi Syndrome
Spina bifida OMIM:304050
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Split Cord Malformation
Myelomeningocele, Hydrocephalus, Cervical spina bifida, Meningocele, Lipomyelomeningocele ORPHA:573278
Intellectual Developmental Disorder, X-Linked 99
Intrauterine growth retardation OMIM:300919
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Patent ductus arteriosus, Atrial septal defect OMIM:300968
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Patent ductus arteriosus, Atrial septal defect, Cardiomyopathy ORPHA:480880
X-Linked Non-Syndromic Intellectual Disability
ORPHA:777

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.

This service may be affected by the Covid-19 pandemic. See how

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