Gene Summary

Name:
actin binding LIM protein family, member 3
Synonyms:
D930036B08Rik

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 freezing behavior Ablim3em1(IMPC)Tcp HOM Early adult 1.15×10-06
anophthalmia Ablim3em1(IMPC)Tcp HOM Early adult 0.00
decreased exploration in new environment Ablim3em1(IMPC)Tcp HOM   Early adult 1.56×10-05
enlarged lymph nodes Ablim3em1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

Eye Morphology

Images Slit Lamp

73 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

97 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Ablim3 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 Ablim3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Depre... ORPHA:280397
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Geniospasm 1
Anxiety OMIM:190100
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Anencephaly 2
Anophthalmia OMIM:619452
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Childhood Disintegrative Disorder
Dementia, Social and occupational deterioration, Mental deterioration, Motor deterioration, Anxie... ORPHA:168782
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Trisomy 13
Anophthalmia, Cognitive impairment, Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:3378
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia, Abnormal spleen morphology ORPHA:2470
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive impairment, Irritability, Anhedon... ORPHA:96369
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:610125
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia OMIM:602450
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Microphthalmia, Syndromic 3
Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:206900
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Microgastria-Limb Reduction Defects Association
Anophthalmia, Splenogonadal fusion, Asplenia OMIM:156810
Trisomy 1Q
Anophthalmia ORPHA:261344
Holoprosencephaly
Anophthalmia, Abnormality of the spleen, Cognitive impairment, Microphthalmia ORPHA:2162
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Meckel Syndrome
Microphthalmia, Asplenia, Anophthalmia, Aplasia/Hypoplasia of the iris, Accessory spleen ORPHA:564
Fibular Hemimelia
Anophthalmia ORPHA:93323
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Aniridia ORPHA:1101
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Vacterl With Hydrocephalus
Anophthalmia, Microphthalmia ORPHA:3412
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Abnormality of the spleen, Microphthalmia ORPHA:2538
Cerebrooculonasal Syndrome
Anophthalmia OMIM:605627
Joubert Syndrome 21
Anophthalmia OMIM:615636
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Craniofacial Microsomia
Anophthalmia, Microphthalmia OMIM:164210
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Optic nerve aplasia ORPHA:264200
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:610829
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Fraser Syndrome 1
Abnormality of the thymus, Anophthalmia, Bilateral microphthalmos OMIM:219000
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Microphthalmia ORPHA:2556
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Microphthalmia ORPHA:141099
Charge Syndrome
Microphthalmia, Anophthalmia, Self-mutilation, Unilateral microphthalmos, Aplasia/Hypoplasia of t... OMIM:214800
Charge Syndrome
Anophthalmia, Microphthalmia ORPHA:138
Focal Dermal Hypoplasia
Anophthalmia, Microphthalmia, Aniridia OMIM:305600
Microphthalmia, Syndromic 2
Anophthalmia, Microphthalmia OMIM:300166
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Fraser Syndrome
Anophthalmia, Microphthalmia ORPHA:2052
Branchiooculofacial Syndrome
Anophthalmia, Microphthalmia, Ectopic thymus tissue OMIM:113620
Microphthalmia With Limb Anomalies
True anophthalmia, Microphthalmia ORPHA:1106
Microphthalmia, Syndromic 6
Anophthalmia, Microphthalmia OMIM:607932
Microphthalmia, Syndromic 1
Anophthalmia, Aggressive behavior, Self-mutilation, Microphthalmia OMIM:309800

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 Ablim3

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 Ablim3.

No publications found that use IMPC mice or data for Ablim3.

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MGI Allele Allele Type Produced
Ablim3em1(IMPC)Tcp Exon Deletion Mice
Ablim3tm114226(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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