Gene Summary

Name:
serine (or cysteine) peptidase inhibitor, clade A, member 3I
Synonyms:
alpha-1 antiproteinase,  Gm6930,  2B2,  antitrypsin

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
increased exploration in new environment Serpina3iem1(IMPC)J HOM Early adult 4.03×10-05
increased grip strength Serpina3iem1(IMPC)J HOM Early adult 1.31×10-07
hyperactivity Serpina3iem1(IMPC)J HOM   Early adult 1.09×10-05
increased vertical activity Serpina3iem1(IMPC)J HOM   Early adult 7.86×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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 Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Electrocardiogram (ECG)

Waveform Image

11 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Serpina3i 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 Serpina3i by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Anxiety, Emotional lability, Atten... ORPHA:280397
Immunodeficiency 8
Hyperactivity OMIM:615401
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Mental deterioration, Ataxia, Difficulty walking, Attention deficit hyperacti... OMIM:619191
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:619639
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Dysmetria, Inability to walk, Gait disturbance OMIM:618090
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior OMIM:604317
Cognitive Impairment With Or Without Cerebellar Ataxia
Cognitive impairment, Dysmetria, Ataxia, Emotional lability, Attention deficit hyperactivity diso... OMIM:614306
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Irritability OMIM:605899
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Mental deterioration, Ataxia OMIM:615924
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Lennox-Gastaut Syndrome
Hyperactivity, Mental deterioration, Falls, Aggressive behavior ORPHA:2382
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior ORPHA:100973
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior OMIM:619470
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior OMIM:300983
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Anxiety, Hyperactivity, Aggressive behavior OMIM:609425
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Juvenile Huntington Disease
Hyperactivity, Dementia, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Irritability, Broad-... ORPHA:248111
Phenylketonuria
Anxiety, Hyperactivity, Aggressive behavior, Irritability, Self-mutilation, Attention deficit hyp... OMIM:261600
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Intellectual Developmental Disorder, Autosomal Dominant 43
Anxiety, Hyperactivity OMIM:616977
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Abnormal aggressive, impulsive or violent behavior, Hyperactivity, Aggressive beh... ORPHA:3077
Landau-Kleffner Syndrome
Memory impairment, Anxiety, Hyperactivity, Aggressive behavior, Steppage gait, Gait ataxia, Emoti... ORPHA:98818
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Self-mutilation, Aggressive behavior, Unsteady gait OMIM:615516
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:301013
Succinic Semialdehyde Dehydrogenase Deficiency
Anxiety, Self-injurious behavior, Hyperactivity, Ataxia, Aggressive behavior OMIM:271980
Cln5 Disease
Dysmetria, Anxiety, Hyperactivity, Inability to walk, Mental deterioration, Ataxia, Aggressive be... ORPHA:228360
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Happy demeanor, Ataxia, Broad-based gait ORPHA:411515
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Athetosis, Ataxia, Aggressive behavior ORPHA:382
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:619467
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait, Aggressive behavior ORPHA:457260
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk OMIM:618718
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Happy demeanor, Broad-based gait, Unsteady gait OMIM:617865
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability OMIM:300831
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Rasmussen Subacute Encephalitis
Cognitive impairment, Memory impairment, Hyperactivity, Inability to walk, Emotional lability, Ir... ORPHA:1929
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior ORPHA:101039
Pitt-Hopkins-Like Syndrome 1
Progressive language deterioration, Hyperactivity, Ataxia, Aggressive behavior OMIM:610042
Optic Atrophy 11
Hyperactivity, Dysmetria, Ataxia OMIM:617302
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Hyperactivity, Aggressive behavior OMIM:300558
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Unsteady gait, Progressive ... ORPHA:485350
Severe Neurodegenerative Syndrome With Lipodystrophy
Cognitive impairment, Hyperactivity, Ataxia, Gait ataxia, Progressive psychomotor deterioration ORPHA:363400
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Hyperactivity, Inability to walk, Aggressive behavior ORPHA:500180
Late Infantile Neuronal Ceroid Lipofuscinosis
Low frustration tolerance, Anxiety, Hyperactivity, Inability to walk, Motor deterioration, Ataxia... ORPHA:168491
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait, Aggressive behavior OMIM:300958
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity OMIM:613192
X-Linked Adrenoleukodystrophy
Cognitive impairment, Hyperactivity, Dementia, Aggressive behavior, Gait disturbance, Attention d... ORPHA:43
Fragile X Syndrome
Self-biting, Hyperactivity OMIM:300624
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Happy demeanor, Ataxia, Gait disturbance OMIM:614104
Cntnap2-Related Developmental And Epileptic Encephalopathy
Low frustration tolerance, Progressive language deterioration, Hyperactivity, Mental deterioratio... ORPHA:163681
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Hyperactivity, Mental deterioration, Ataxia, Unsteady gait, Emotional ... ORPHA:35069
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Progressive neurologic deterioration, Aggressive behavior OMIM:252920
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Unsteady gait, Abnormal emotion/affect behavior, Attention deficit hyperac... ORPHA:1942
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
Histidinemia
Hyperactivity ORPHA:2157
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:600430
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Adenylosuccinase Deficiency
Happy demeanor, Hyperactivity, Inability to walk, Aggressive behavior, Gait ataxia, Self-mutilation OMIM:103050
X-Linked Creatine Transporter Deficiency
Self-mutilation, Hyperactivity, Athetosis, Ataxia ORPHA:52503
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Ataxia ORPHA:228402
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Cognitive impairment, Ataxia OMIM:601853
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Irritability, Attention def... ORPHA:449291
X-Linked Cerebral Adrenoleukodystrophy
Dysmetria, Memory impairment, Hyperactivity, Inability to walk, Mental deterioration, Ataxia, Gai... ORPHA:139396
16P12.1P12.3 Triplication Syndrome
Nail-biting, Anxiety, Hyperactivity, Skin-picking, Attention deficit hyperactivity disorder ORPHA:485405
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Neurodegeneration With Brain Iron Accumulation 2B
Dysmetria, Hyperactivity, Mental deterioration, Gait ataxia, Emotional lability, Dysdiadochokinesis OMIM:610217
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity, Low frustration tolerance, Self-mutilation OMIM:300486
Glass Syndrome
Hyperactivity, Happy demeanor, Broad-based gait, Aggressive behavior OMIM:612313
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Motor deterioration OMIM:252930
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Hyperactivity, Ataxia, Gait imbalance, Broad-based gait ORPHA:98794
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Emotional lability, Hyperactivity, Low frustration tolerance, Aggressive behavior OMIM:309520
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Argininemia
Hyperactivity, Spastic gait, Irritability OMIM:207800
Citrullinemia Type Ii
Hyperactivity, Memory impairment, Aggressive behavior, Irritability ORPHA:247585
Legius Syndrome
Hyperactivity, Cognitive impairment, Attention deficit hyperactivity disorder ORPHA:137605
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Dementia, Mental deterioration, Akinesia, Ataxia, Gait disturbance OMIM:234200
Choreoacanthocytosis
Self-injurious behavior, Hyperactivity, Anxiety, Head-banging, Mental deterioration, Aggressive b... ORPHA:2388
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability ORPHA:447997
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Ataxia, Aggressive behavior, Unsteady gait, Gait ataxia, Broad-based ga... OMIM:614756

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 Serpina3i

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 Serpina3i.

No publications found that use IMPC mice or data for Serpina3i.

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MGI Allele Allele Type Produced
Serpina3iem1(IMPC)J Exon Deletion Mice

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