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 7.15×10-07
decreased exploration in new environment Ablim3em1(IMPC)Tcp HOM   Early adult 1.24×10-05
increased hematocrit Ablim3em1(IMPC)Tcp HOM Early adult 5.84×10-05
enlarged lymph nodes Ablim3em1(IMPC)Tcp HOM Early adult 0.00
anophthalmia Ablim3em1(IMPC)Tcp HOM Early adult 0.00
decreased basophil cell number Ablim3em1(IMPC)Tcp HOM Early adult 4.54×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Ophthalmoscopy

97 Images

Eye Morphology

Images Slit Lamp

73 Images

Gross Pathology and Tissue Collection

Images

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral 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
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Trimethylaminuria
Depression, Anemia, Splenomegaly, Neutropenia OMIM:602079
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Reticuloendotheliosis, X-Linked
Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:263400
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia OMIM:618394
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Anophthalmia ORPHA:411986
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Anencephaly 2
Anophthalmia OMIM:619452
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Depression, Emotional lability, Abnormal pro... ORPHA:101096
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymphopenia, Abnor... OMIM:602450
Trisomy 13
Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia, Cognitive impairment ORPHA:3378
Matthew-Wood Syndrome
Microphthalmia, Abnormal spleen morphology, Anophthalmia ORPHA:2470
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... OMIM:300835
Gaisböck Syndrome
Increased hematocrit, Increased red blood cell count, Elevated plasma cell count, Increased mean ... ORPHA:90041
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Abnormal fear-induced behavior, Depression, Confusion, Abnormal erythrocyte enzyme con... ORPHA:100924
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... OMIM:613179
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Hypoplastic spleen, Anophthalmia OMIM:601186
Trisomy 1Q
Anophthalmia ORPHA:261344
Cockayne Syndrome Type 1
Anemia, Anophthalmia ORPHA:90321
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Joubert Syndrome 21
Splenomegaly, Dysphagia, Anophthalmia OMIM:615636
Holoprosencephaly
Microphthalmia, Abnormality of the spleen, Anophthalmia, Cognitive impairment ORPHA:2162
Fibular Hemimelia
Thrombocytopenia, Anophthalmia ORPHA:93323
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormality of the spleen, Anophthalmia ORPHA:2538
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Meckel Syndrome
Microphthalmia, Anophthalmia, Accessory spleen, Asplenia, Aplasia/Hypoplasia of the iris ORPHA:564
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia OMIM:206900
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia ORPHA:1101
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, T lymphocytopenia, Lymph node hypoplasia, Neutropenia OMIM:300755
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Leukemia, Anophthalmia ORPHA:2526
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Anophthalmia OMIM:605627
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Charge Syndrome
Microphthalmia, Anophthalmia, Compulsive behaviors, Dysphagia, Attention deficit hyperactivity di... ORPHA:138
Fraser Syndrome 1
Bilateral microphthalmos, Abnormal thymus morphology, Anophthalmia OMIM:219000
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Charge Syndrome
Microphthalmia, Anophthalmia, Unilateral microphthalmos, Dysphagia, Lymphopenia, Aplasia/Hypoplas... OMIM:214800
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Normocytic anemia, Reduced hematocrit, Normochromic anemia ORPHA:91500
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610829
Proboscis Lateralis
Optic nerve hypoplasia, Microphthalmia, Anophthalmia ORPHA:141099
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia OMIM:300166
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Anophthalmia OMIM:305600
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia, Ectopic thymus tissue OMIM:113620
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Microphthalmia, Syndromic 1
Microphthalmia, Self-mutilation, Anophthalmia, Aggressive behavior OMIM:309800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353281
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353277

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.

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter