Not currently registered for phenotyping at IMPC

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

Gene Summary

amyloid beta 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
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Impaired ability to form peer relationships, Restrictive behavior, Increased serum serotonin, Inf... OMIM:209850
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Restrictive behavior, Increased serum serotonin, Inf... OMIM:607373
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608631
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Restrictive behavior, Increased serum serotonin, Inf... OMIM:608636
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Reduced social reciprocity, Aggressive behavior, Polyphagia ORPHA:329249
Intellectual Developmental Disorder, Autosomal Recessive 64
Aggressive behavior, Reduced social reciprocity OMIM:618103
Attention deficit hyperactivity disorder, Depression, Fever, Anorexia ORPHA:770
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Motor deterioration, Social a... ORPHA:168782
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Hereditary Central Diabetes Insipidus
Weight loss, Polydipsia, Fever, Irritability ORPHA:30925
Chronic Hiccup
Depression, Weight loss, Abnormal eating behavior ORPHA:396
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Reduced social reciprocity OMIM:606053
Mantle Cell Lymphoma
Weight loss, Fever, Anorexia ORPHA:52416
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Kleine-Levin Syndrome
Transient global amnesia, Depression, Polydipsia, Fever, Confusion, Abnormal eating behavior, Irr... ORPHA:33543
Central Diabetes Insipidus
Depression, Polydipsia, Failure to thrive, Fever, Weight loss, Anorexia ORPHA:178029
Undifferentiated Pleomorphic Sarcoma
Weight loss, Fever, Anorexia ORPHA:2023
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Obesity, Irritability, Aggressive behavior, Hyperactivity, Anorex... ORPHA:3077
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, Restrictive behavior, Increased serum serotonin, Inf... OMIM:608049
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Short attention span, Attention deficit hyperactivity disorder, Compulsive behaviors, Ab... ORPHA:444002
Leptin Receptor Deficiency
Obesity, Abnormal eating behavior, Emotional lability, Aggressive behavior, Polyphagia OMIM:614963
Progressive Nodular Histiocytosis
Cachexia, Fever ORPHA:158022
Marchiafava-Bignami Disease
Memory impairment, Depression, Fever, Dementia, Confusion, Abnormal emotion, Aggressive behavior,... ORPHA:221074
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Confusion, Disinhibition, Dementia, Semantic dementia, Abnormal social behavio... ORPHA:1020
Hsd10 Disease
Dysphagia, Short attention span, Abnormal social behavior ORPHA:391417
X-Linked Intellectual Disability, Van Esch Type
Failure to thrive, Decreased serum testosterone concentration, Reduced social reciprocity, Attent... ORPHA:163976
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Short attention span, Recurrent ha... ORPHA:449291
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Parkinsonism-Dystonia 3, Childhood-Onset
Aggressive behavior, Depression, Dysphagia, Reduced social reciprocity OMIM:619738
Postorgasmic Illness Syndrome
Depression, Fever, Irritability ORPHA:279947
Wagro Syndrome
Obesity, Emotional lability, Low frustration tolerance, Reduced social reciprocity, Polyphagia, A... OMIM:612469
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:64280
Young-Onset Parkinson Disease
Depression, Frontal lobe dementia, Short attention span, Restless legs, Reduced social reciprocit... ORPHA:2828
Angelman Syndrome Due To A Point Mutation
Heat intolerance, Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapp... ORPHA:411511
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation ORPHA:100924
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... OMIM:610042
Abnormality of temperature regulation, Irritability ORPHA:848
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Motor stereotypy, Abnormal social behavior, Hyperactivity ORPHA:530983
Fatal Familial Insomnia
Dementia, Weight loss, Dysphagia, Fever OMIM:600072
Pfapa Syndrome
Weight loss, Abnormality of temperature regulation ORPHA:42642
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Emotional lability, Ab... OMIM:219090
Serotonin Syndrome
Mental deterioration, Fever, Confusion, Irritability, Delirium, Restlessness, Agitation ORPHA:43116
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Metachromatic Leukodystrophy, Adult Form
Memory impairment, Depression, Progressive psychomotor deterioration, Short attention span, Emoti... ORPHA:309271
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level, Fever OMIM:614674
48,Xxxy Syndrome
Obesity, Irritability, Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive o... ORPHA:96263
Aregenerative Anemia
Depression, Fever, Emotional lability, Cognitive impairment, Dementia ORPHA:101096
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Emotional lability, Abnormal social behavior, Progressive psychomotor deter... ORPHA:309263
Letterer-Siwe Disease
Fever, Irritability OMIM:246400
Machado-Joseph Disease Type 1
Abnormality of temperature regulation, Memory impairment, Dysphagia ORPHA:276238
Machado-Joseph Disease Type 2
Abnormality of temperature regulation, Memory impairment, Dysphagia ORPHA:276241
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation ORPHA:98757
Machado-Joseph Disease Type 3
Abnormality of temperature regulation, Memory impairment, Dysphagia ORPHA:276244
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior ORPHA:309256
Fg Syndrome Type 1
Compulsive behaviors, Slender build, Attention deficit hyperactivity disorder, Abnormal social be... ORPHA:93932
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Obesity, Abnormality of temperature regulation, Hypothermia OMIM:618493
Joubert Syndrome 35
Abnormality of temperature regulation OMIM:618161
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Obesity, Reduced social reciprocity, Skin-picking, Attent... ORPHA:177907
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Mental deterioration, Depression, Low frustration tolerance... ORPHA:646
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emotional la... ORPHA:353281
Deeah Syndrome
Decreased circulating free T3, Self-mutilation, Decreased body weight, Decreased circulating free... OMIM:619004
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Aggressive behavior, Attention deficit hyperactivity disorde... ORPHA:805
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, Irritability ORPHA:1675
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation OMIM:619173
Mend Syndrome
Aggressive behavior, Failure to thrive, Abnormal social behavior, Hyperactivity ORPHA:401973
Stuve-Wiedemann Syndrome 1
Abnormality of temperature regulation, Dysphagia, Fever, Recurrent fever OMIM:601559
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Memory impairment, Abnormal social behavior ORPHA:314647
Cockayne Syndrome Type 1
Abnormality of temperature regulation, Failure to thrive ORPHA:90321
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emotional la... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emotional la... ORPHA:353277
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Inappropriate laughter, Overfriendliness, Attention deficit hyperactivity disorder... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Inappropriate laughter, Overfriendliness, Attention deficit hyperactivity disorder... 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
Mental deterioration, Failure to thrive, Heat intolerance, Abnormality of temperature regulation,... 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
Depression, Failure to thrive in infancy, Obesity, Overfriendliness, Attention deficit hyperactiv... 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

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