Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

amyloid beta (A4) precursor protein-binding, family A, member 2
X11-like,  X11L,  Mint 2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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 Apba2 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 Apba2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Depre... ORPHA:280397
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Aggressive behavior, No social interaction, Impaired social interactions, Hy... ORPHA:329249
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Shyness OMIM:618221
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Pelger-Huet-Like Anomaly And Episodic Fever With Abdominal Pain
Recurrent fever, Fever OMIM:260570
Hereditary Central Diabetes Insipidus
Weight loss, Polydipsia, Irritability, Fever ORPHA:30925
Dystonia 12
Dysphagia, Fever, Emotional lability, Anxiety, Depression OMIM:128235
Anxiety, Depression, Fever ORPHA:770
Early-Onset Schizophrenia
Shyness, No social interaction, Unhappy demeanor, Polyphagia, Low self esteem, Suicidal ideation,... ORPHA:96369
Migraine, Familial Hemiplegic, 1
Anxiety, Fever OMIM:141500
Childhood Disintegrative Disorder
Dementia, Motor deterioration, Social and occupational deterioration, Mental deterioration, Anxie... ORPHA:168782
Huntington Disease-Like 2
Dementia, Weight loss, Apathy, Irritability, Anxiety, Depression OMIM:606438
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Weight loss, Fever, Anxiety, Depression ORPHA:178029
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Abnormal eating behavior, Impulsivity, Abnormal social behavior, Anxiety ORPHA:101039
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior OMIM:618010
Weight loss, Fever ORPHA:3389
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Anxiety, Poor eye contact, Obesity ORPHA:444002
Leptin Receptor Deficiency
Polyphagia, Aggressive behavior, Abnormal eating behavior, Obesity, Decreased response to growth ... OMIM:614963
Dopa-Responsive Dystonia
Agoraphobia, Fever, Emotional lability, Irritability, Panic attack, Anxiety, Depression, Abnormal... ORPHA:255
Progressive Nodular Histiocytosis
Cachexia, Fever ORPHA:158022
Hyperphosphatemia, Polyuria, And Seizures
Irritability, Fever OMIM:239350
Leukoencephalopathy With Vanishing White Matter
Decreased circulating progesterone, Memory impairment, Emotional lability, Fever OMIM:603896
Postorgasmic Illness Syndrome
Irritability, Depression, Fever ORPHA:279947
Angelman Syndrome Due To A Point Mutation
Dysphagia, Heat intolerance, Happy demeanor, Abnormal eating behavior, Inappropriate laughter, Ob... ORPHA:411511
Luscan-Lumish Syndrome
Shyness, Polyphagia, Obesity, Aggressive behavior, Anxiety OMIM:616831
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Semantic dementia, Disinhibition, Abnormal social behavior, Memory impairment ORPHA:1020
Hsd10 Disease
Abnormal social behavior, Dysphagia ORPHA:391417
Childhood Absence Epilepsy
Abnormal social behavior, Anxiety, Depression, Low self esteem ORPHA:64280
1P21.3 Microdeletion Syndrome
Shyness, Self-injurious behavior, Aggressive behavior, Self-mutilation, Abnormal eating behavior,... ORPHA:293948
Abnormality of temperature regulation, Irritability ORPHA:848
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Irritability, Anxiety, I... ORPHA:449291
Pfapa Syndrome
Weight loss, Abnormality of temperature regulation ORPHA:42642
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Fatal Familial Insomnia
Weight loss, Dementia, Dysphagia, Fever OMIM:600072
Stiff-Person Syndrome
Agoraphobia, Anxiety, Depression, Fever OMIM:184850
Aregenerative Anemia
Dementia, Cognitive impairment, Fever, Emotional lability, Depression ORPHA:101096
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Fever ORPHA:656
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Dementia, Emotional lability, Abnormal social behavior, De... ORPHA:309271
Fructose-1,6-Bisphosphatase Deficiency
Irritability, Fever OMIM:229700
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior, Progressive psychomotor deterioration, Emotional lability ORPHA:309263
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level, Fever OMIM:614674
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation ORPHA:98757
Letterer-Siwe Disease
Irritability, Fever OMIM:246400
Machado-Joseph Disease Type 1
Dysphagia, Abnormality of temperature regulation, Memory impairment ORPHA:276238
Machado-Joseph Disease Type 2
Dysphagia, Abnormality of temperature regulation, Memory impairment ORPHA:276241
48,Xxxy Syndrome
Obesity, Irritability, Abnormal social behavior, Anxiety, Abnormal aggressive, impulsive or viole... ORPHA:96263
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Emotional lability ORPHA:309256
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypothermia, Polyphagia, Self-injurious behavior, Polydipsia, Aggressive behavior, Decreased resp... ORPHA:293987
Deeah Syndrome
Dysphagia, Decreased circulating free T3, Decreased circulating free T4 level, Abnormality of tem... OMIM:619004
Machado-Joseph Disease Type 3
Dysphagia, Abnormality of temperature regulation, Memory impairment ORPHA:276244
Niemann-Pick Disease Type C
Dementia, Dysphagia, Aggressive behavior, Cognitive impairment, Apathy, Progressive neurologic de... ORPHA:646
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypothermia, Abnormality of temperature regulation, Obesity, Fever OMIM:618493
Joubert Syndrome 35
Abnormality of temperature regulation OMIM:618161
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Prader-Willi Syndrome Due To Translocation
Skin-picking, Happy demeanor, Obesity, Decreased response to growth hormone stimulation test, Abn... ORPHA:177907
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation OMIM:619173
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior, Irritability ORPHA:1675
Mend Syndrome
Abnormal social behavior, Aggressive behavior, Failure to thrive ORPHA:401973
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior, Aggressive behavior, Memory impairment ORPHA:314647
Fg Syndrome Type 1
Abnormal social behavior, Slender build ORPHA:93932
Tuberous Sclerosis Complex
Self-injurious behavior, Aggressive behavior, Impulsivity, Abnormal social behavior, Anxiety, Dep... ORPHA:805
Cockayne Syndrome Type 1
Failure to thrive, Abnormality of temperature regulation ORPHA:90321
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, Slender build, Inappropriate laughter, Overfriendliness, Anxiety, Decr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, Slender build, Inappropriate laughter, Overfriendliness, Anxiety, Decr... ORPHA:363958
Ulnar-Mammary Syndrome
Obesity, Abnormality of temperature regulation ORPHA:3138
Chronic Mucocutaneous Candidiasis
Abnormality of temperature regulation ORPHA:1334
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Dementia, Heat intolerance, Failure to thrive, Abnormality of temperature regulation, Mental dete... ORPHA:2273
Central Hypoventilation Syndrome, Congenital, 1
Abnormality of temperature regulation OMIM:209880
Acute Transverse Myelitis
Abnormality of temperature regulation, Fever ORPHA:139417
Williams Syndrome
Failure to thrive in infancy, Obesity, Overfriendliness, Anxiety, Depression, Abnormal social beh... ORPHA:904
Autosomal Recessive Malignant Osteopetrosis
Abnormality of temperature regulation ORPHA:667


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 Apba2

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 Apba2.

No publications found that use IMPC mice or data for Apba2.

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MGI Allele Allele Type Produced
Apba2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Apba2tm212043(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors

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