Gene Summary

Name:
adenosine deaminase domain containing 2
Synonyms:
4930403J07Rik

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 coping response Adad2em1(IMPC)J HOM Early adult 9.54×10-05
female infertility Adad2em1(IMPC)J HOM Early adult 0.00
hyperactivity Adad2em1(IMPC)J HOM   Early adult 3.92×10-05
male infertility Adad2em1(IMPC)J 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.

Electrocardiogram (ECG)

Waveform Image

20 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

X-ray

XRay Images Forepaw

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

Sleep Wake

Wake state (bmp file)

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Combined SHIRPA and Dysmorphology

Images

4 Images

Eye Morphology

Images Slit Lamp

1 Images

Electroretinography 2

Rod and cone PDF

4 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Adad2 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 Adad2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Immunodeficiency 8
Hyperactivity OMIM:615401
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Gilles De La Tourette Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Self-mutilation OMIM:137580
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety OMIM:619031
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Spinocerebellar Ataxia Type 32
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Azoospermia ORPHA:276183
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Female infertility, Primary amenorrhea, Premature ovarian ins... OMIM:612310
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Familial Male-Limited Precocious Puberty
Oligospermia, Attention deficit hyperactivity disorder, Male infertility ORPHA:3000
Early-Onset Schizophrenia
Unhappy demeanor, Suicidal ideation, Decreased female libido, Irritability, Anhedonia, Emotional ... ORPHA:96369
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Difficulty walking OMIM:619191
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Irritability, Lethargy OMIM:605899
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior OMIM:604317
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Irritability, Broad... ORPHA:248111
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Classic Galactosemia
Secondary amenorrhea, Gait disturbance, Dystonia, Oligomenorrhea, Gait imbalance, Attention defic... ORPHA:79239
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior ORPHA:100973
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Hyperactivity, Anxiety, Gait ataxia OMIM:609425
Ring Chromosome Y Syndrome
Streak ovary, Azoospermia, Female infertility, Male hypogonadism, Abnormal spermatogenesis, Male ... ORPHA:261529
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Ataxia OMIM:300983
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety OMIM:616977
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Aggressive behavior, Ataxia OMIM:612716
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Falls ORPHA:2382
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:271980
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Hyperactivity, Attention deficit hyperactivity disorder, Anxiety OMIM:301013
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Hyperactivity, Emotional lability, Anxiety, Attention deficit... ORPHA:98818
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:619467
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Happy demeanor, Broad-based gait ORPHA:411515
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency OMIM:619518
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Cln5 Disease
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... ORPHA:228360
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait OMIM:617865
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability OMIM:300831
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk OMIM:618718
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Premature ovarian insufficiency ORPHA:391307
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Hyperactivity, Anxiety ORPHA:101039
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Gait ataxia ORPHA:500180
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Progressive cerebellar ataxia, Hyperactivity, Unste... ORPHA:485350
Rasmussen Subacute Encephalitis
Hemidystonia, Hyperactivity, Inability to walk, Irritability, Emotional lability, Attention defic... ORPHA:1929
Intellectual Developmental Disorder, X-Linked 30
Aggressive behavior, Hyperactivity, Anxiety OMIM:300558
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Aggressive behavior, Hypogonadism, Hyperactivity, Gait ataxia OMIM:300354
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Irregular menstruation, Female infertility, Premature ovarian insufficiency OMIM:110100
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
X-Linked Adrenoleukodystrophy
Gait disturbance, Aggressive behavior, Hyperactivity, Impotence, Attention deficit hyperactivity ... ORPHA:43
47,Xyy Syndrome
Oligospermia, Azoospermia, Hyperactivity, Male infertility, Attention deficit hyperactivity disorder ORPHA:8
Inverted Duplicated Chromosome 15 Syndrome
Hypogonadism, Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Self-biting OMIM:618314
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:300958
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Self-mutilation, Hyperactivity, Ataxia ORPHA:52503
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal emotion/... ORPHA:1942
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:600430
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Mental Retardation, Autosomal Dominant 7
Hyperactivity, Gait disturbance, Ataxia, Happy demeanor OMIM:614104
Adenylosuccinase Deficiency
Happy demeanor, Aggressive behavior, Self-mutilation, Hyperactivity, Inability to walk, Gait ataxia OMIM:103050
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Aromatase Deficiency
Female infertility, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism ORPHA:91
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Aggressive behavior, Hyperactivity, Inability to walk, Ataxia, Low frustration ... ORPHA:168491
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Gait ataxia, Ataxia, Limb dystonia ORPHA:363400
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia OMIM:610042
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Anxiety, Attention def... ORPHA:449291
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Ataxia ORPHA:228402
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Emotional lability, Unsteady gait ORPHA:35069
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Low frustration tolerance ORPHA:163681
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emotional lability, Gait at... OMIM:610217
Cri-Du-Chat Syndrome
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity, Anxiety, Di... OMIM:123450
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Hyperactivity, Anxiety, Ataxia OMIM:618430
16P12.1P12.3 Triplication Syndrome
Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-biting ORPHA:485405
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:73272
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Low frustration tolerance, Self-mutilation OMIM:300486
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Ataxia OMIM:601853
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Citrullinemia Type Ii
Aggressive behavior, Hyperactivity, Irritability, Delayed menarche, Lethargy ORPHA:247585
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Aggressive behavior, Hyperactivity, Inability to walk, A... ORPHA:72
Glass Syndrome
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait OMIM:612313
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior OMIM:252920
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation ORPHA:412035
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Male hypogonadism, Ataxia, Difficu... ORPHA:139396
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Ataxia, Hyperactivity, Broad-based gait ORPHA:98794
Androgen Insensitivity Syndrome
Male infertility ORPHA:754
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Oligomenorrhea, Streak ovary, Female infertility, Premature ovarian insuffi... ORPHA:572333
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Emotional lability, Low frustration tolerance OMIM:309520
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Self-mutilation, Low frustration tolerance ORPHA:363686
X-Linked Intellectual Disability, Cabezas Type
Hypogonadism, Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:85293
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Histidinemia
Hyperactivity ORPHA:2157
Complete Androgen Insensitivity Syndrome
Male infertility, Primary amenorrhea ORPHA:99429
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Female infertility, Primary amenorrhea, Premature ovarian insufficiency, An... ORPHA:99413
Turner Syndrome
Secondary amenorrhea, Female infertility, Primary amenorrhea, Premature ovarian insufficiency, An... ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Female infertility, Primary amenorrhea, Premature ovarian insufficiency, An... ORPHA:99228
Monosomy X
Secondary amenorrhea, Female infertility, Primary amenorrhea, Premature ovarian insufficiency, An... ORPHA:99226
Argininemia
Hyperactivity, Spastic gait, Irritability OMIM:207800
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Male infertility, Primary amenorrhea, Azoospermia ORPHA:90797
Choreoacanthocytosis
Hair-pulling, Lingual dystonia, Loss of ambulation, Self-injurious behavior, Oromandibular dyston... ORPHA:2388
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Male infertility, Primary amenorrhea, Irregular menstruation, Decreased fertility ORPHA:90793
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait OMIM:614756
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Male infertility, Hypogonadism ORPHA:85450
Joubert Syndrome 1
Hyperactivity, Aggressive behavior, Self-mutilation, Ataxia OMIM:213300
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia ORPHA:760
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism OMIM:227650
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blepharospasm OMIM:234200
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Azoospermia, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism, ... ORPHA:251510
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder ORPHA:137605
Bloom Syndrome
Oligospermia, Male infertility, Premature ovarian insufficiency, Azoospermia ORPHA:125
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability ORPHA:447997
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Tuberous Sclerosis Complex
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Attention deficit hyperacti... ORPHA:805
45,X/46,Xy Mixed Gonadal Dysgenesis
Chordee, Male infertility, Streak ovary, Azoospermia ORPHA:1772
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Hyperactivity, Difficulty walking, Abnormal emotion/affect behavior, Nail-biting ORPHA:642
Cystinosis, Nephropathic
Male hypogonadism, Male infertility OMIM:219800
Cystic Fibrosis
Male infertility OMIM:219700
Noonan Syndrome 1
Hypogonadism, Male infertility OMIM:163950

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 Adad2

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 Adad2.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
ADAD1 and ADAD2, testis-specific adenosine deaminase domain-containing proteins, are required for male fertility. Scientific reports (July 2020) Adad2em3(IMPC)J PMC7360552
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Adad2em1J PMC5503261

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Adad2em1(IMPC)J Indel Mice
Adad2tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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