Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
amyloid beta precursor protein binding family A member 2
Synonyms:
X11-like,  X11L,  Mint 2

IMPC Data Collections

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

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.

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
phenotypes
Matching phenotypes Source
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors OMIM:618830
Autism
Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Abn... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Abn... OMIM:607373
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
Rabies
Fever, Attention deficit hyperactivity disorder, Anorexia, Depression ORPHA:770
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Imp... OMIM:608636
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Hereditary Central Diabetes Insipidus
Fever, Irritability, Polydipsia, Weight loss ORPHA:30925
Chronic Hiccup
Depression, Weight loss, Abnormal eating behavior ORPHA:396
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Mantle Cell Lymphoma
Fever, Anorexia, Weight loss ORPHA:52416
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Kleine-Levin Syndrome
Fever, Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypers... ORPHA:33543
Central Diabetes Insipidus
Fever, Anorexia, Weight loss, Depression, Polydipsia, Failure to thrive ORPHA:178029
Undifferentiated Pleomorphic Sarcoma
Fever, Anorexia, Weight loss ORPHA:2023
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Obesity, Impaired social interactions, Polyphagia ORPHA:329249
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili... ORPHA:3077
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Ab... ORPHA:444002
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Abn... OMIM:608049
Leptin Receptor Deficiency
Abnormal eating behavior, Aggressive behavior, Obesity, Emotional lability, Polyphagia OMIM:614963
Progressive Nodular Histiocytosis
Fever, Cachexia ORPHA:158022
Marchiafava-Bignami Disease
Fever, Confusion, Aggressive behavior, Depression, Dementia, Addictive alcohol use, Abnormal emot... ORPHA:221074
Early-Onset Autosomal Dominant Alzheimer Disease
Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abnormal soc... ORPHA:1020
Hsd10 Disease
Short attention span, Abnormal social behavior, Dysphagia ORPHA:391417
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Postorgasmic Illness Syndrome
Fever, Irritability, Depression ORPHA:279947
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Angelman Syndrome Due To A Point Mutation
Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent... ORPHA:411511
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obesity, Inappro... ORPHA:98794
Beta-Thalassemia
Irritability, Abnormality of temperature regulation ORPHA:848
Lamb-Shaffer Syndrome
Hyperactivity, Abnormal social behavior, Abnormal repetitive mannerisms, Abnormal temper tantrums ORPHA:530983
Fatal Familial Insomnia
Weight loss, Fever, Dementia, Dysphagia OMIM:600072
Pfapa Syndrome
Abnormality of temperature regulation, Weight loss ORPHA:42642
Serotonin Syndrome
Fever, Restlessness, Confusion, Irritability, Agitation, Mental deterioration, Delirium ORPHA:43116
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Fructose-1,6-Bisphosphatase Deficiency
Fever, Irritability OMIM:229700
Metachromatic Leukodystrophy, Adult Form
Short attention span, Progressive psychomotor deterioration, Emotional lability, Depression, Deme... ORPHA:309271
48,Xxxy Syndrome
Obesity, Irritability, Attention deficit hyperactivity disorder, Abnormal social behavior, Abnorm... ORPHA:96263
Periodic Fever, Menstrual Cycle-Dependent
Fever, Increased circulating cortisol level OMIM:614674
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Abnormal social behavior, Progressive psychomotor deterioration, Short attent... ORPHA:309263
Aregenerative Anemia
Fever, Depression, Dementia, Cognitive impairment, Emotional lability ORPHA:101096
Letterer-Siwe Disease
Fever, Irritability OMIM:246400
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation ORPHA:98757
Machado-Joseph Disease Type 1
Memory impairment, Abnormality of temperature regulation, Dysphagia ORPHA:276238
Machado-Joseph Disease Type 2
Memory impairment, Abnormality of temperature regulation, Dysphagia ORPHA:276241
Machado-Joseph Disease Type 3
Memory impairment, Abnormality of temperature regulation, Dysphagia ORPHA:276244
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior ORPHA:309256
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Abnormal social behavior, Slender build, Compulsive beh... ORPHA:93932
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Obesity, Hypothermia OMIM:618493
Prader-Willi Syndrome Due To Translocation
Obesity, Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention de... ORPHA:177907
Joubert Syndrome 35
Abnormality of temperature regulation OMIM:618161
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Aggressive behavior, Mental deterioration, Depression, Deme... ORPHA:646
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353281
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... ORPHA:805
Dihydropyrimidine Dehydrogenase Deficiency
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior ORPHA:1675
Deeah Syndrome
Abnormality of temperature regulation, Dysphagia, Decreased circulating free T4 concentration, De... OMIM:619004
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation OMIM:619173
Mend Syndrome
Failure to thrive, Hyperactivity, Abnormal social behavior, Aggressive behavior ORPHA:401973
Stuve-Wiedemann Syndrome 1
Fever, Abnormality of temperature regulation, Recurrent fever, Dysphagia OMIM:601559
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Abnormal social behavior, Aggressive behavior ORPHA:314647
Cockayne Syndrome Type 1
Failure to thrive, Abnormality of temperature regulation ORPHA:90321
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353277
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno... ORPHA:363958
Ulnar-Mammary Syndrome
Abnormality of temperature regulation, Obesity ORPHA:3138
Chronic Mucocutaneous Candidiasis
Abnormality of temperature regulation ORPHA:1334
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of temperature regulation, Dementia, Mental deterioration, Failure to thrive, Heat in... ORPHA:2273
Central Hypoventilation Syndrome, Congenital, 1
Abnormality of temperature regulation OMIM:209880
Williams Syndrome
Failure to thrive in infancy, Obesity, Depression, Compulsive behaviors, Attention deficit hypera... ORPHA:904
Acute Transverse Myelitis
Fever, Abnormality of temperature regulation ORPHA:139417
Autosomal Recessive Malignant Osteopetrosis
Abnormality of temperature regulation ORPHA:667

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 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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