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:
Dffrx,  Fafl,  5730589N07Rik

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 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, 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, Patent ductus arteriosus, Cardiomyopathy ORPHA:480880
Intellectual Developmental Disorder, X-Linked 99
OMIM:300919
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
Spina bifida, Spinal dysraphism 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
Spina bifida, Hypoplastic left heart, Anencephaly, Ventricular septal defect ORPHA:2476
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect ORPHA:2345
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Spina bifida, Atrial septal defect, Abnormal aortic valve morp... ORPHA:1120
Schisis Association
Spina bifida, Anencephaly ORPHA:63862
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus OMIM:207950
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Czeizel-Losonci Syndrome
Spina bifida, Dextrocardia, Spina bifida occulta, Myelomeningocele, Hydrocephalus ORPHA:2437
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida OMIM:600122
Cerebrocostomandibular Syndrome
Spina bifida, Ventricular septal defect, Meningocele, Hydranencephaly, Intrauterine growth retard... ORPHA:1393
Fountain Syndrome
Spina bifida, Spina bifida occulta ORPHA:3219
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Mosaic Trisomy 9
Spina bifida, Atrial septal defect, Ventricular septal defect, Abnormal heart valve morphology, E... ORPHA:99776
Iniencephaly
Spina bifida, Holoprosencephaly, Spinal dysraphism, Anencephaly, Myelomeningocele, Hydrocephalus ORPHA:63259
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Limb Body Wall Complex
Spina bifida, Atrial septal defect, Short umbilical cord, Abnormal heart morphology, Ventricular ... ORPHA:2369
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Vacterl With Hydrocephalus
Spina bifida, Arrhinencephaly, Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus ORPHA:3412
Trisomy 18
Spina bifida, Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Anencephaly, In... ORPHA:3380
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Pagod Syndrome
Meningocele, Spina bifida, Situs inversus totalis, Hypoplastic left heart ORPHA:991
Focal Dermal Hypoplasia
Spina bifida, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Abnormal car... ORPHA:2092
Basal Cell Nevus Syndrome
Cardiac fibroma, Spina bifida, Cardiac rhabdomyoma, Hydrocephalus OMIM:109400
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
22Q11.2 Deletion Syndrome
Spina bifida, Tricuspid atresia, Truncus arteriosus, Atrial septal defect, Ventricular septal def... ORPHA:567
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular septal de... ORPHA:508498
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Neu-Laxova Syndrome 1
Spina bifida, Short umbilical cord, Patent foramen ovale, Ventricular septal defect, Patent ductu... OMIM:256520
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Fanconi Anemia
Spina bifida, Atrial septal defect, Patent ductus arteriosus, Abnormal aortic valve morphology, U... ORPHA:84
Thrombocytopenia-Absent Radius Syndrome
Spina bifida, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:274000
Nail-Patella Syndrome
Spina bifida OMIM:161200
Jacobsen Syndrome
Spina bifida, Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Intrauter... ORPHA:2308
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Pulmoni... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Pulmoni... ORPHA:363958
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Vater/Vacterl Association
Spina bifida, Ventricular septal defect, Patent ductus arteriosus, Patent urachus, Intrauterine g... OMIM:192350
Aicardi Syndrome
Spina bifida OMIM:304050
Schinzel-Giedion Syndrome
Abnormal heart morphology, Umbilical hernia, Neural tube defect ORPHA:798
Alobar Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect ORPHA:93924
Semilobar Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect ORPHA:220386
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus, Abnormal heart morphology ORPHA:322
Split Cord Malformation
Cervical spina bifida, Meningocele, Lipomyelomeningocele, Myelomeningocele, Hydrocephalus ORPHA:573278
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, Patent ductus arteriosus, Cardiomyopathy ORPHA:480880
X-Linked Non-Syndromic Intellectual Disability
ORPHA:777
Intellectual Developmental Disorder, X-Linked 99
OMIM:300919

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.

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MGI Allele Allele Type Produced
Usp9xtm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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