Gene Summary

Name:
NACHT and WD repeat domain containing 2
Synonyms:
B830017A01Rik,  3110047P20Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased anxiety-related response Nwd2em1(IMPC)Ccpcz HOM Early adult 7.78×10-14
enlarged seminal vesicle Nwd2em1(IMPC)Ccpcz HOM Early adult 0.00
hyperactivity Nwd2em1(IMPC)Ccpcz HOM   Early adult 2.46×10-14
decreased CD8-positive, naive alpha-beta T cell number Nwd2em1(IMPC)Ccpcz HOM Early adult 6.64×10-05
decreased body weight Nwd2em1(IMPC)Ccpcz HOM   Early adult 4.93×10-06
abnormal seminal vesicle morphology Nwd2em1(IMPC)Ccpcz HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

Human diseases caused by Nwd2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nwd2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 52
Cryptorchidism, Anxiety, Hyperactivity OMIM:617796
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Morm Syndrome
Micropenis, Hyperactivity, Aggressive behavior, Truncal obesity ORPHA:75858
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Irritability, Hyperactivity OMIM:616657
Hyperlysinemia, Type I
Anemia, Hyperactivity OMIM:238700
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal aggressive, impulsive or violent behavior, Hyperactivity, Obesity, Aggressive behavior, ... ORPHA:3077
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Anxiety, Hyperactivity, Aggressive behavior, Failure to thrive OMIM:609425
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Coffin-Siris Syndrome 8
Self-injurious behavior, Failure to thrive, Hyperactivity, Aggressive behavior OMIM:618362
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior OMIM:604317
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Glycine Encephalopathy
Irritability, Impulsivity, Hyperactivity, Aggressive behavior OMIM:605899
Phenylketonuria
Anxiety, Hyperactivity, Aggressive behavior, Irritability, Self-mutilation, Depression, Attention... OMIM:261600
Immunodeficiency 17
Failure to thrive, Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia OMIM:615607
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age ORPHA:85288
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:100973
Intellectual Developmental Disorder, Autosomal Dominant 43
Anxiety, Hyperactivity, Impulsivity OMIM:616977
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Graves Disease, Susceptibility To, 1
Goiter, Irritability, Hyperactivity, Weight loss OMIM:275000
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Hyperactivity, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:301013
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Hyperactivity, Aggressive behavior OMIM:615824
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Macroorchidism, Elevated circulating growth hormone concentration, Aggressive beha... ORPHA:85327
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Hyperactivity, Micropenis, Attention deficit hyperactivity disorder OMIM:618504
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Decreased body weight, Aggressive behavior OMIM:618342
Non-Syndromic Posterior Hypospadias
Ventral shortening of foreskin, Urethral diverticulum, Small for gestational age, Cryptorchidism,... ORPHA:95706
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Alazami-Yuan Syndrome
Cryptorchidism, Hyperactivity OMIM:617126
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity, Macroorchidism OMIM:300143
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperactivity, Aggressi... OMIM:615286
Lennox-Gastaut Syndrome
Hyperactivity, Personality disorder, Aggressive behavior ORPHA:2382
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Depression OMIM:619467
Landau-Kleffner Syndrome
Anxiety, Hyperactivity, Aggressive behavior, Emotional lability, Depression, Impulsivity, Attenti... ORPHA:98818
Juvenile Huntington Disease
Depression, Hyperactivity, Weight loss, Irritability ORPHA:248111
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior OMIM:300983
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism, Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, Bipolar aff... ORPHA:485350
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Cryptorchidism, Micropenis, Hyperactivity, Aggressive behavior, Abdominal obesity, H... OMIM:300354
Ck Syndrome
Irritability, Hyperactivity, Aggressive behavior, Slender build ORPHA:251383
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior OMIM:619470
Clark-Baraitser Syndrome
Hyperactivity, Obesity, Aggressive behavior OMIM:617752
Fragile X Syndrome
Self-biting, Hyperactivity, Congenital macroorchidism, Macroorchidism, postpubertal OMIM:300624
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Hyperactivity OMIM:274270
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD4-positive hel... OMIM:617241
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Hyperactivity, Oligospermia, Macroorchidism,... ORPHA:8
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Obesity, Hyperactivity, Inappropriate laughter ORPHA:411515
Ck Syndrome
Irritability, Hyperactivity, Aggressive behavior, Slender build OMIM:300831
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Premature ovarian insufficiency, Lymphopenia ORPHA:391307
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Precocious puberty, Aggressive behavior, Decreased body weight OMIM:300958
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism, Attention deficit hyperactivity disorder, Hyperactivity, Macrocytic anemia OMIM:614294
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Impulsivity, Aggressive behavior ORPHA:101039
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:271980
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Precocious puberty, Aggressive behavior ORPHA:457260
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
13Q12.3 Microdeletion Syndrome
Cryptorchidism, Hyperactivity, Obesity, Failure to thrive, Self-mutilation ORPHA:412035
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Hyperthyroidism, Nonautoimmune
Goiter, Thyroid hyperplasia, Hyperactivity, Small for gestational age OMIM:609152
Inverted Duplicated Chromosome 15 Syndrome
Self-biting, Cryptorchidism, Hyperactivity, Aggressive behavior, Precocious puberty, Gonadal dysg... ORPHA:3306
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Failure to thrive, Happy demeanor, Hyperactivity OMIM:617865
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Cryptorchidism, Self-injurious behavior, Hyperactivity, Hypoplasia... ORPHA:228402
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Hyperactivity, Aggressive behavior ORPHA:369939
16P12.1P12.3 Triplication Syndrome
Nail-biting, Anxiety, Hyperactivity, Failure to thrive, Bilateral cryptorchidism, Decreased respo... ORPHA:485405
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter OMIM:618718
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Hyperactivity, Obesity, Hypospadias OMIM:614613
Intellectual Developmental Disorder, Autosomal Dominant 7
Happy demeanor, Small for gestational age, Failure to thrive in infancy, Hyperactivity, Inappropr... OMIM:614104
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Self-mutilation, Aggressive behavior OMIM:615516
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Hyperactivity, Aggressive behavior OMIM:300558
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Small scrotum, Low frustration tolerance, Cryptorchidism, Micropenis, Hyperactivity, Self-mutilat... OMIM:300486
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior OMIM:612716
Cri-Du-Chat Syndrome
Small for gestational age, Cryptorchidism, Anxiety, Hyperactivity, Conspicuously happy dispositio... OMIM:123450
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Truncal obesity OMIM:613192
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Gonadal dysgenesis, Decreased proportion of CD4-positive helper T cells, Decreased proportion of ... OMIM:611926
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Low frustration tolerance, Decreased body weight, Cryptorchidism, Micropenis, Hyp... OMIM:300534
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hyperactivity, Truncal obesity, Failure to thrive, Hypogonadism, Atten... ORPHA:73272
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Obesity, Aggressive behavior OMIM:600430
Mend Syndrome
Cryptorchidism, Hyperactivity OMIM:300960
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hyperactivity, Goiter, Thyroid hyperplasia, Weight loss ORPHA:424
Cntnap2-Related Developmental And Epileptic Encephalopathy
Low frustration tolerance, Hyperactivity, Obesity, Aggressive behavior, Precocious puberty, Self-... ORPHA:163681
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Aggressive behavior ORPHA:382
Chromosome 10Q26 Deletion Syndrome
Small scrotum, Small for gestational age, Cryptorchidism, Micropenis, Hyperactivity, Aggressive b... OMIM:609625
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, Irritability, Depression, A... ORPHA:449291
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:500180
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmune hemolytic a... ORPHA:760
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Bipolar affective disorder, Depression, Decreased respons... OMIM:601853
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity OMIM:619239
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Self-injurious behavior, Hyperactivity, Irritability, Precocious puberty ORPHA:447980
Pediatric-Onset Graves Disease
Mood swings, Hyperactivity, Splenomegaly, Failure to thrive, Irritability, Neutropenia in presenc... ORPHA:525731
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Obesity, Hypoplasia of penis, Aggressive behavior, Cachexia, Hypogonadism, Decreas... ORPHA:85293
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Low frustration tolerance, Hyperactivity, Inappropriate laughter, Self-mutilation, Hypospadias ORPHA:363686
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
X-Linked Adrenoleukodystrophy
Disinhibition, Hyperactivity, Aggressive behavior, Inappropriate sexual behavior, Attention defic... ORPHA:43
Intellectual Disability-Strabismus Syndrome
Cryptorchidism, Micropenis, Hyperactivity, Aggressive behavior, Failure to thrive, Impulsivity, D... ORPHA:363528
Familial Gestational Hyperthyroidism
Goiter, Thyroid hyperplasia, Hyperactivity, Weight loss ORPHA:99819
Stankiewicz-Isidor Syndrome
Pineal cyst, Cryptorchidism, Micropenis, Shawl scrotum, Hyperactivity, Hypospadias OMIM:617516
X-Linked Creatine Transporter Deficiency
Hyperactivity, Self-mutilation, Cachexia ORPHA:52503
Adenylosuccinase Deficiency
Happy demeanor, Hyperactivity, Aggressive behavior, Inappropriate laughter, Self-mutilation OMIM:103050
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Splenomegaly, Aggressive behavior OMIM:252920
Bone Marrow Failure Syndrome 3
Pancytopenia, Cryptorchidism, Hyperactivity, Acute myeloid leukemia, Failure to thrive, Aplastic ... OMIM:617052
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Failu... ORPHA:911
Chromosome 13Q33-Q34 Deletion Syndrome
Small for gestational age, Cryptorchidism, Hyperactivity, Aggressive behavior, Bifid scrotum, Hyp... OMIM:619148
Rauch-Steindl Syndrome
Anxiety, Failure to thrive, Hyperactivity, Aggressive behavior OMIM:619695
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Cryptorchidism, Hypoplastic nipples, Hyperactivity OMIM:618505
21Q22.11Q22.12 Microdeletion Syndrome
Failure to thrive in infancy, Self-injurious behavior, Hyperactivity, Inappropriate crying, Hypop... ORPHA:261323
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior OMIM:610042
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Dyrk1A-Related Intellectual Disability Syndrome
Anterior pituitary hypoplasia, Small for gestational age, Cryptorchidism, Micropenis, Anxiety, Hy... ORPHA:464306
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Hyperactivity, B lymphocytopenia, Premature ovari... OMIM:251260
Legius Syndrome
Hyperactivity, Male urethral meatus stenosis, Ovarian neoplasm, Acute monocytic leukemia, Attenti... ORPHA:137605
Mend Syndrome
Cryptorchidism, Failure to thrive, Hyperactivity, Aggressive behavior ORPHA:401973
Tuberous Sclerosis Complex
Self-injurious behavior, Anxiety, Hyperactivity, Parathyroid adenoma, Aggressive behavior, Pheoch... ORPHA:805
Neurodegeneration With Brain Iron Accumulation 2B
Emotional lability, Hyperactivity, Impulsivity OMIM:610217
Choreoacanthocytosis
Socially inappropriate behavior, Self-injurious behavior, Anxiety, Abnormal erythrocyte enzyme le... ORPHA:2388
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Cryptorchidism, Self-injurious behavior, Hyperactivity, O... ORPHA:353281
Acrodysostosis With Multiple Hormone Resistance
Pseudohypoparathyroidism, Cryptorchidism, Hyperactivity, Obesity, Decreased response to growth ho... ORPHA:280651
Histidinemia
Hyperactivity ORPHA:2157
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Tooth abscess, Anemia, Self-mutilation, Impulsivity, Abnormal emotion... ORPHA:642
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Paroxysmal bursts of laughter, Cryptorchidism, Micropenis, Hyperactivity, Obesity,... OMIM:309580

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 Nwd2

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 Nwd2.

No publications found that use IMPC mice or data for Nwd2.

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MGI Allele Allele Type Produced
Nwd2em1(IMPC)Ccpcz Exon Deletion Mice
Nwd2tm97149(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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