Gene Summary

Name:
family with sequence similarity 135, member A
Synonyms:
4921533L14Rik

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
abnormal skin morphology Fam135aem1(IMPC)Tcp HOM Early adult 0.00
increased mean corpuscular hemoglobin concentration Fam135aem1(IMPC)Tcp HOM Early adult 7.59×10-05
decreased locomotor activity Fam135aem1(IMPC)Tcp HOM Early adult 1.66×10-05
decreased mean corpuscular volume Fam135aem1(IMPC)Tcp HOM Early adult 1.05×10-13
increased freezing behavior Fam135aem1(IMPC)Tcp HOM Early adult 5.06×10-08
increased anxiety-related response Fam135aem1(IMPC)Tcp HOM Early adult 5.02×10-07
abnormal lens morphology Fam135aem1(IMPC)Tcp HOM Early adult 3.17×10-05
decreased mean corpuscular hemoglobin Fam135aem1(IMPC)Tcp HOM Early adult 2.84×10-07
abnormal retina blood vessel morphology Fam135aem1(IMPC)Tcp HOM Early adult 5.08×10-07
abnormal retina vasculature morphology Fam135aem1(IMPC)Tcp HOM Early adult 6.55×10-07

Download data as:  TSV  XLS

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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

100 Images

Eye Morphology

Images Slit Lamp

96 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Fam135a 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 Fam135a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Irritability, Thrombocytopenia ORPHA:848
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, Truncal atax... OMIM:617101
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Retinal dystrophy, Thromboc... OMIM:617052
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Agit... ORPHA:100924
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... OMIM:617021
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... OMIM:310600
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Normocytic anemia, Abnormal retinal vascular morphology, Macular edema,... ORPHA:247691
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Lethargy, Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume OMIM:185000
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia, Lethargy ORPHA:2169
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia ORPHA:621
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Astigmatism, Increased mean corpuscular volume, Dysphagia, Thrombocytopenia ORPHA:261250
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... ORPHA:124
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Aplasia/Hypoplasia of the optic nerve, Hb... ORPHA:423479
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior ORPHA:309246
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thro... OMIM:127550
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism OMIM:619769
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Optic atrophy, Depression, Self-injurious behavior, Anemia ORPHA:847
Lead Poisoning
Anorexia, Imbalanced hemoglobin synthesis, Depression, Abnormal T cell morphology, Attention defi... ORPHA:330015
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Primary congenital glaucoma, Reticulocytopenia,... OMIM:105650
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Abnormal repetitive mannerisms, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic m... OMIM:301040
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Cataract, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Abnorm... ORPHA:353281
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Lethargy, Hypochromic microcytic anemia ORPHA:97214
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Cataract, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cornea... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Cataract, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cornea... 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 Fam135a

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 Fam135a.

No publications found that use IMPC mice or data for Fam135a.

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
Fam135atm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fam135aem1(IMPC)Tcp Exon Deletion Mice
Fam135atm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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