Gene Summary

Name:
ELAV like RNA binding protein 1
Synonyms:
ELAV (embryonic lethal, abnormal vision)-like 1 (Hu antigen R),  Hua,  W91709,  2410055N02Rik,  HuR

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
impaired pupillary reflex Elavl1tm1b(EUCOMM)Hmgu HET Early adult 5.48×10-11
abnormal embryo size Elavl1tm1b(EUCOMM)Hmgu HOM E15.5 0.00
anophthalmia Elavl1tm1b(EUCOMM)Hmgu HOM E15.5 0.00
abnormal limb morphology Elavl1tm1b(EUCOMM)Hmgu HOM E15.5 0.00
decreased mean corpuscular hemoglobin Elavl1tm1b(EUCOMM)Hmgu HET   Early adult 2.39×10-06
edema Elavl1tm1b(EUCOMM)Hmgu HOM E15.5 0.00
increased circulating alanine transaminase level Elavl1tm1b(EUCOMM)Hmgu HET   Early adult 7.27×10-06
preweaning lethality, complete penetrance Elavl1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
embryonic growth retardation Elavl1tm1b(EUCOMM)Hmgu HOM E9.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote Ambiguous
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 50% (1 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote Ambiguous

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Morphology Embryo E14.5-E15.5

Images

2 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Morphology Embryo E12.5

Images

2 Images

Combined SHIRPA and Dysmorphology

Images

5 Images

Adult LacZ

LacZ Images Section

31 Images

Gross Morphology Embryo E9.5

Images

4 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Elavl1 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 Elavl1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Small placenta, Intrauterine growth retardation,... ORPHA:439167
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Silver-Russell Syndrome Due To A Point Mutation
Microphallus, Bifid scrotum, Small placenta, Postnatal growth retardation, Intrauterine growth re... ORPHA:397590
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta, Postnatal growth retardation, Intrauterine growth retardation, Hypogonadism, Seve... ORPHA:73272
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Talipes equinovarus, Microphthalmia, Rocker bottom foot, Edema OMIM:616570
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Anophthalmia, Polydactyly, Talipes equinovarus, Microphth... OMIM:613885
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Cherubism
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Edema OMIM:189800
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Postnatal growth retardation, Large placenta, Umbilical hernia ORPHA:254534
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Anophthalmia, Microphthalmia OMIM:164180
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation wit... OMIM:300400
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... OMIM:613673
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Hydrolethalus
Micromelia, Microphthalmia, Anophthalmia, Postaxial hand polydactyly, Polyhydramnios, Anencephaly ORPHA:2189
Trisomy 13
Ectrodactyly, Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Anophthalmia, Micr... ORPHA:3378
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... OMIM:603554
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Anophthalmia Plus Syndrome
Deviation of finger, Spina bifida, Anophthalmia ORPHA:1104
Fetal Akinesia Deformation Sequence 1
Small placenta, Intrauterine growth retardation, Increased nuchal translucency, Short umbilical c... OMIM:208150
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Mirage Syndrome
Lymphopenia, Adrenal insufficiency, Decreased testicular size, Leukopenia, Cryptorchidism, Adrena... OMIM:617053
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Trisomy 1Q
Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger, Increased nuchal translucency... ORPHA:261344
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip... ORPHA:93323
Neu-Laxova Syndrome 1
Hydranencephaly, Small placenta, Intrauterine growth retardation, Polyhydramnios, Short umbilical... OMIM:256520
Matthew-Wood Syndrome
Intrauterine growth retardation, Anophthalmia, Microphthalmia ORPHA:2470
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Large placenta, ... ORPHA:254528
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, Anophthalmia, Microphthalmia, Proximal placement o... ORPHA:139471
Beta-Thalassemia
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Microphthalmia, Syndromic 5
Short stature, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Solitary Median Maxillary Central Incisor
Short stature, Anophthalmia, Microphthalmia OMIM:147250
Isolated Anencephaly
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes ORPHA:563609
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia, Tremor OMIM:250800
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia ORPHA:90322
Vacterl With Hydrocephalus
Intrauterine growth retardation, Anophthalmia, Spina bifida, Hypoplasia of the radius, Microphtha... ORPHA:3412
Restrictive Dermopathy
Small placenta, Intrauterine growth retardation, Large placenta, Short umbilical cord, Decreased ... ORPHA:1662
Cerebrooculonasal Syndrome
Anophthalmia, Postaxial hand polydactyly ORPHA:66625
Immunodeficiency 9
Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count OMIM:612782
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Anophthalmia, Microphthalmia ORPHA:77298
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Hypoplasia of the th... OMIM:243150
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa... OMIM:614034
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Hypoplasia of the thymus, Hepatomegaly, Jaundice, Intrahepatic biliary dysgenesis OMIM:214110
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryptorchidism, Splenomegaly, Erythroid hypoplasia, ... OMIM:612541
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Mosaic Trisomy 16
Intrauterine growth retardation, Large placenta, Single umbilical artery, Hypospadias, Premature ... ORPHA:1708
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Kagami-Ogata Syndrome
Polyhydramnios, Postnatal growth retardation, Large placenta, Premature birth ORPHA:254519
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Multilobulated spleen, Hypoplastic spleen, Cryptorchidism OMIM:601186
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Congenital Syphilis
Intrauterine growth retardation, Large placenta, Hydrops fetalis, Premature birth ORPHA:499009
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Mild postnatal growth re... OMIM:265300
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Pearson Syndrome
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Exocrine panc... ORPHA:699
Walker-Warburg Syndrome
Metatarsus valgus, Anophthalmia, Microphthalmia ORPHA:899
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis, Limb dystonia ORPHA:621
Greenberg Dysplasia
Rhizomelia, Disproportionate short-limb short stature, Large placenta, Increased nuchal transluce... OMIM:215140
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Anophthalmia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Trichohepatoenteric Syndrome 1
Intrauterine growth retardation, Large placenta, Abnormalities of placenta or umbilical cord, Pol... OMIM:222470
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Ulnar deviation of finger, Umbilical hernia, Camptodactyly of finger, Aniridia, Anophthalmia, Tal... ORPHA:1101
Syndromic Diarrhea
Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplasia of the thymus, ... ORPHA:84064
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II dia... OMIM:269200
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Optic nerve aplasia, Short 5th metacarpal, Anophthalmia, Short... ORPHA:264200
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Chylothorax, Lymphedema, Pleural effusion, Anophthalmia, Microphthalmia, Edema ORPHA:2526
Microgastria-Limb Reduction Defect Syndrome
Short thumb, Ectrodactyly, Abnormal morphology of the radius, Oligodactyly, Absent hand, Anophtha... ORPHA:2538
Meckel Syndrome
Postaxial foot polydactyly, Preaxial hand polydactyly, Oligohydramnios, Encephalocele, Anophthalm... ORPHA:564
Restrictive Dermopathy 1
Premature rupture of membranes, Spontaneous chorioamniotic separation, Intrauterine growth retard... OMIM:275210
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Cerebrooculonasal Syndrome
Postnatal growth retardation, Encephalocele, Anophthalmia, Postaxial polydactyly, Postaxial hand ... OMIM:605627
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... OMIM:208900
Meckel Syndrome, Type 1
Occipital encephalocele, Abnormality of the uterus, Ambiguous genitalia, female, Intrauterine gro... OMIM:249000
Microphthalmia, Syndromic 3
Optic nerve aplasia, Postnatal growth retardation, Anophthalmia, Microphthalmia, Short stature, O... OMIM:206900
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Synostosis of carpal bones, Short tibia, Finger synda... ORPHA:1106
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of the spleen, Graves ... ORPHA:227982
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Adrenal insufficiency, Primary adren... OMIM:240300
Cockayne Syndrome Type 1
Postnatal growth retardation, Anophthalmia ORPHA:90321
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Autoimmune hemolytic anemia, Hashimoto t... ORPHA:436252
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of the spleen, Type I ... ORPHA:227990
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... ORPHA:906
Holoprosencephaly
Spinal dysraphism, Branchial anomaly, Encephalocele, Anophthalmia, Hand polydactyly, Brachydactyl... ORPHA:2162
Charge Syndrome
Bifid femur, Umbilical hernia, Abnormal tibia morphology, Postnatal growth retardation, Intrauter... ORPHA:138
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Hypoplasia of the thymus, Adrenal hypoplasia OMIM:613177
Treacher-Collins Syndrome
Cryptorchidism, Hypoplasia of the thymus, Abnormality of the adrenal glands, Thyroid hypoplasia, ... ORPHA:861
Focal Dermal Hypoplasia
Toe syndactyly, Anophthalmia, Microphthalmia, Foot polydactyly, Short metacarpal, Myelomeningocel... OMIM:305600
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Hand clenching, Sandal gap, Broad hallux, Umbilical hernia, Anophth... OMIM:300166
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
22Q11.2 Deletion Syndrome
Cholelithiasis, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus, Hypothyroidism, Abnormali... ORPHA:567
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Joubert Syndrome 21
Occipital encephalocele, Encephalocele, Anophthalmia OMIM:615636
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Splenomegaly, Ovarian cyst, Hepatic steatosis, Parathyroi... OMIM:188400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red c... OMIM:102700
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Postnatal growth retardation, Intrauterine growth retardation, Large placenta,... ORPHA:96334
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Eec Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Anterior hypopit... ORPHA:1896
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Umbilical hernia, Large placenta, Cryptorchidism, Polyhydramnios, Gonad... ORPHA:116
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Atypical or prolong... ORPHA:83471
Holoprosencephaly 9
Anophthalmia, Microphthalmia, Short stature, Postaxial hand polydactyly, Occipital meningocele, O... OMIM:610829
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Abdominal situs inversus OMIM:619123
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Patent ductus arteriosus, Annular pancreas ORPHA:210122
Fraser Syndrome 1
Bilateral microphthalmos, Myelomeningocele, Cutaneous finger syndactyly, Encephalocele, Anophthal... OMIM:219000
Microphthalmia With Linear Skin Defects Syndrome
Severe short stature, Growth delay, Anophthalmia, Microphthalmia ORPHA:2556
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Primary Ciliary Dyskinesia
Asplenia, Polysplenia ORPHA:244
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Charge Syndrome
Bifid femur, Short thumb, Umbilical hernia, Absent radius, Postnatal growth retardation, Unilater... OMIM:214800
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr... OMIM:618223
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Sweeney-Cox Syndrome
Asplenia, Patent ductus arteriosus, Bilateral cryptorchidism OMIM:617746
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Umbilical hernia, Myelomeningocele, Encephalocele, Anophthalmi... ORPHA:2052
Mosaic Trisomy 9
Asplenia, Patent ductus arteriosus, Cryptorchidism, Abnormal liver lobulation ORPHA:99776
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Lead Poisoning
Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentration, Increased LDL cholester... ORPHA:330015
Branchiooculofacial Syndrome
Short thumb, Preaxial hand polydactyly, Postnatal growth retardation, Intrauterine growth retarda... OMIM:113620
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Truncus Arteriosus
Adrenocortical abnormality, Patent ductus arteriosus, Hypoplasia of the thymus ORPHA:3384
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Microphthalmia, Syndromic 6
Toe syndactyly, Finger syndactyly, Thumb contracture, Anophthalmia, Polydactyly, Brachydactyly, M... OMIM:607932
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia, Patent ductus arteriosus OMIM:619657
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Cryptorchidism, Increased serum testosterone level OMIM:264090
Monosomy 22
Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia ORPHA:96123
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Optic atrophy, Abnormal hemoglobin ORPHA:847
Feingold Syndrome 1
Accessory spleen, Annular pancreas, Polysplenia, Asplenia, Patent ductus arteriosus OMIM:164280
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Heterotaxy, Visceral, 1, X-Linked
Abdominal situs inversus, Polysplenia, Biliary atresia, Hepatomegaly, Asplenia, Patent ductus art... OMIM:306955
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Abdominal situs ambiguus, Patent ductus arteriosus, Abdominal situs inversus OMIM:270100
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Congenital hypothyroidism, Aplasia of the thymus, Hypothyroidism, Hypoplastic nipp... OMIM:620186
Microphthalmia, Syndromic 1
Clinodactyly, Prominent fingertip pads, Radial deviation of finger, Anophthalmia, Microphthalmia,... OMIM:309800
Craniofacial Microsomia 1
Occipital encephalocele, Genu valgum, Branchial anomaly, Anophthalmia, Partial duplication of thu... OMIM:164210
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas, Patent ductus arteriosus, Pulmonary lymphangiectasia OMIM:265380
Pseudoaminopterin Syndrome
Asplenia, Cryptorchidism ORPHA:221120
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Proteus Syndrome
Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic... ORPHA:744
Alkaptonuria
Methemoglobinemia, Hemolytic anemia ORPHA:56
Mowat-Wilson Syndrome
Asplenia, Patent ductus arteriosus, Hydrocele testis, Cryptorchidism ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Patent ductus arteriosus, Hydrocele testis, Cryptorchidism ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Hydrocele testis, Cryptorchidism ORPHA:261537

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 Elavl1

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 Elavl1.

No publications found that use IMPC mice or data for Elavl1.

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
Elavl1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Elavl1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Elavl1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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