Gene Summary

Name:
ELAV (embryonic lethal, abnormal vision)-like 1 (Hu antigen R)
Synonyms:
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
preweaning lethality, complete penetrance Elavl1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
embryonic growth retardation Elavl1tm1b(EUCOMM)Hmgu HOM E9.5 0.00
decreased mean corpuscular hemoglobin Elavl1tm1b(EUCOMM)Hmgu HET   Early adult 2.39×10-06
increased circulating alanine transaminase level Elavl1tm1b(EUCOMM)Hmgu HET   Early adult 7.32×10-06
abnormal limb morphology Elavl1tm1b(EUCOMM)Hmgu HOM E15.5 0.00
abnormal embryo size Elavl1tm1b(EUCOMM)Hmgu HOM E15.5 0.00
impaired pupillary reflex Elavl1tm1b(EUCOMM)Hmgu HET Early adult 8.55×10-11
anophthalmia Elavl1tm1b(EUCOMM)Hmgu HOM E15.5 0.00
edema Elavl1tm1b(EUCOMM)Hmgu HOM E15.5 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  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote Ambiguous
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote Ambiguous
Brainstem N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 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)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available

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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
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 1.18% (6 of 510)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

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 Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

31 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

Gross Morphology Embryo E9.5

Images

4 Images

Gross Morphology Embryo E14.5-E15.5

Images

1 Images

Gross Morphology Embryo E12.5

Images

2 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
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Placental Insufficiency
Abnormal placenta morphology, Preeclampsia, Small placenta, Eclampsia, Abnormal umbilical cord bl... 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
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Microphthalmia, Edema, Rocker bottom foot, Intrauterine growth retardation OMIM:616570
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Hypospadias, Oligohydramnios, Small placenta, Postnatal growth retardation, Crypto... ORPHA:397590
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Short stature, Severe postnatal growth retardation, Small... ORPHA:73272
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Meckel Syndrome, Type 8
Talipes equinovarus, Anophthalmia, Polydactyly, Postaxial hand polydactyly, Microphthalmia, Encep... OMIM:613885
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Cherubism
Optic neuropathy, Macular scar, Marcus Gunn pupil OMIM:118400
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Postnatal growth retardation, Umbilical hernia, Large placenta ORPHA:254534
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Anophthalmia, Microphthalmia OMIM:164180
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Microphthalmia With Limb Anomalies
Growth delay, Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fin... OMIM:206920
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegal... OMIM:300400
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Hydrolethalus
Anencephaly, Anophthalmia, Arrhinencephaly, Micromelia, Postaxial hand polydactyly, Polyhydramnio... ORPHA:2189
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Trisomy 13
Ectrodactyly, Hydrops fetalis, Anophthalmia, Postaxial hand polydactyly, Microphthalmia, Aplasia/... ORPHA:3378
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Fetal Akinesia Deformation Sequence 1
Stillbirth, Fetal akinesia sequence, Short umbilical cord, Small placenta, Polyhydramnios, Crypto... OMIM:208150
Anophthalmia Plus Syndrome
Spina bifida, Anophthalmia, Deviation of finger ORPHA:1104
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Neu-Laxova Syndrome 1
Intrauterine growth retardation, Short umbilical cord, Bifid uterus, Hydranencephaly, Small place... OMIM:256520
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Trisomy 1Q
Arachnodactyly, Camptodactyly of finger, Hydrops fetalis, Anophthalmia, Polyhydramnios, Increased... ORPHA:261344
Fibular Hemimelia
Abnormality of fibula morphology, Genu valgum, Disproportionate prominence of the femoral medial ... ORPHA:93323
Mirage Syndrome
Adrenal insufficiency, Lymphopenia, Cryptorchidism, Hypergonadotropic hypogonadism, Leukopenia, P... OMIM:617053
Matthew-Wood Syndrome
Intrauterine growth retardation, Anophthalmia, Microphthalmia ORPHA:2470
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... ORPHA:848
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, ... ORPHA:254528
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Postaxial foot polydactyly, Microphthalmia, Proximal placement of thumb, Finger syn... ORPHA:139471
Solitary Median Maxillary Central Incisor
Short stature, Anophthalmia, Microphthalmia OMIM:147250
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Short stature, Anophthalmia, Microphthalmia OMIM:610125
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia ORPHA:90322
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia ORPHA:66625
Vacterl With Hydrocephalus
Hypoplasia of the radius, Anophthalmia, Arrhinencephaly, Polyhydramnios, Microphthalmia, Spina bi... ORPHA:3412
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Anophthalmia, Microphthalmia ORPHA:77298
Restrictive Dermopathy
Hypospadias, Short umbilical cord, Small placenta, Polyhydramnios, Premature delivery because of ... ORPHA:1662
Mosaic Trisomy 16
Single umbilical artery, Hypospadias, Preeclampsia, Maternal diabetes, Intrauterine growth retard... ORPHA:1708
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... OMIM:602450
Heme Oxygenase 1 Deficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Throm... OMIM:614034
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Jaundice, Hypoplasia of the thymus, Cryptorchidism, Intrahepatic biliary dysgenesis OMIM:214110
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... OMIM:243150
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatomegaly, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus, Monocytosis, H... OMIM:612541
Microphthalmia, Syndromic 9
Cryptorchidism, Patent ductus arteriosus, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Kagami-Ogata Syndrome
Polyhydramnios, Postnatal growth retardation, Premature birth, Large placenta ORPHA:254519
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Pearson Syndrome
Hypoparathyroidism, Adrenal insufficiency, Exocrine pancreatic insufficiency, Neutropenia, Hepato... ORPHA:699
Hereditary Methemoglobinemia
Methemoglobinemia, Limb dystonia, Athetosis ORPHA:621
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion OMIM:617300
Walker-Warburg Syndrome
Metatarsus valgus, Anophthalmia, Microphthalmia ORPHA:899
Greenberg Dysplasia
Disproportionate short-limb short stature, Echogenic fetal bowel, Hydrops fetalis, Nonimmune hydr... OMIM:215140
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Cirrhosis... OMIM:269200
Syndromic Diarrhea
Lymphopenia, Hepatomegaly, Hepatoblastoma, Splenomegaly, Cirrhosis, Hypoplasia of the thymus, Inc... ORPHA:84064
Trichohepatoenteric Syndrome 1
Short stature, Hypospadias, Abnormalities of placenta or umbilical cord, Polyhydramnios, Intraute... OMIM:222470
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
2-3 toe syndactyly, Anophthalmia, 3-4 finger syndactyly, Rhizomelia, Microphthalmia OMIM:615877
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Talipes equinovarus, Camptodactyly of finger, Anophthalmia, Ulnar deviation of finger, Umbilical ... ORPHA:1101
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Mild postnatal growth retardation, Chylous ascites, Palpebral edema, N... OMIM:265300
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic fibrosis, Hepatomegaly, Asplenia, Cholestasis OMIM:615415
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... OMIM:208540
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Ectrodactyly, Abnormality of finger, Abnormality of the humerus, Anophthalmia, Arrhi... ORPHA:2538
14Q22Q23 Microdeletion Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Short stature, Anophthalmia, Short foot, Short... ORPHA:264200
Meckel Syndrome
Oligohydramnios, Anencephaly, Anophthalmia, Postaxial hand polydactyly, Postaxial foot polydactyl... ORPHA:564
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Meckel Syndrome, Type 1
Breech presentation, Ambiguous genitalia, female, External genital hypoplasia, Ambiguous genitali... OMIM:249000
Restrictive Dermopathy 1
Premature rupture of membranes, Stillbirth, Hypospadias, Short umbilical cord, Neonatal death, Sp... OMIM:275210
Microgastria-Limb Reduction Defects Association
Absent thumb, Hand oligodactyly, Hypoplasia of the radius, Anophthalmia, Arrhinencephaly, Hypopla... OMIM:156810
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Chylothorax, Severe short stature, Anophthalmia, Lymphedema, Pleural effusion, Edema ORPHA:2526
Cerebrooculonasal Syndrome
Postaxial polydactyly, Optic nerve hypoplasia, Anophthalmia, Postaxial hand polydactyly, Postnata... OMIM:605627
Microphthalmia, Syndromic 3
Short stature, Optic nerve hypoplasia, Anophthalmia, Microphthalmia, Postnatal growth retardation... OMIM:206900
Autoimmune Polyendocrinopathy Type 3
Thymoma, Graves disease, Hypergonadotropic hypogonadism, Leukopenia, Autoimmune thrombocytopenia,... ORPHA:227982
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Ataxia-Telangiectasia
Lymphopenia, Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Decreased... OMIM:208900
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Adrenal insufficiency, Chronic active hepatitis, Decreased ci... OMIM:240300
Microphthalmia With Limb Anomalies
True anophthalmia, Sandal gap, Bowing of the long bones, Microphthalmia, Clinodactyly of the 5th ... ORPHA:1106
Combined Immunodeficiency-Enteropathy Spectrum
Hypoplasia of the thymus, Peritoneal abscess, Hepatitis, Type I diabetes mellitus, Hashimoto thyr... ORPHA:436252
Cockayne Syndrome Type 1
Postnatal growth retardation, Anophthalmia ORPHA:90321
Autoimmune Polyendocrinopathy Type 4
Thymoma, Hypergonadotropic hypogonadism, Leukopenia, Autoimmune thrombocytopenia, Macrocytic anem... ORPHA:227990
Holoprosencephaly
Microphthalmia, Anophthalmia, Brachydactyly, Spinal dysraphism, Branchial anomaly, Hand polydacty... ORPHA:2162
Joubert Syndrome 21
Occipital encephalocele, Anophthalmia OMIM:615636
Wiskott-Aldrich Syndrome
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Hemolytic anemia, Microcyt... ORPHA:906
Charge Syndrome
Clinodactyly of the 5th finger, Short stature, Anophthalmia, Brachydactyly, Abnormality of tibia ... ORPHA:138
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Focal Dermal Hypoplasia
Umbilical hernia, Microphthalmia, Anophthalmia, Short phalanx of finger, Postaxial hand polydacty... OMIM:305600
Treacher-Collins Syndrome
Hypoplasia of the thymus, Abnormality of the adrenal glands, Patent ductus arteriosus, Thyroid hy... ORPHA:861
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Contracture of the proximal interphalangeal joint of the 3rd toe, 2... OMIM:300166
22Q11.2 Deletion Syndrome
Cholelithiasis, Hypoparathyroidism, Hyperthyroidism, Splenomegaly, Hypoplasia of the thymus, Abno... ORPHA:567
Holoprosencephaly 9
Short stature, Optic nerve hypoplasia, Anophthalmia, Postaxial hand polydactyly, Microphthalmia OMIM:610829
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, External genital hypoplasia, Short stature, Polyhydramnios, Spinal ... ORPHA:96334
Eec Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Anterior hypopit... ORPHA:1896
Digeorge Syndrome
Cholelithiasis, Hydrocele testis, Decreased circulating parathyroid hormone level, Splenomegaly, ... OMIM:188400
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinop... OMIM:102700
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Polyhydramnios, Gonadoblastoma, Umbilical hernia, Cryptorchidism, Prema... ORPHA:116
Feingold Syndrome 1
Annular pancreas, Accessory spleen, Patent ductus arteriosus, Polysplenia, Asplenia OMIM:164280
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Sweeney-Cox Syndrome
Bilateral cryptorchidism, Asplenia OMIM:617746
Thymic Aplasia
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Aplasia of the thymus, T... ORPHA:83471
Right Atrial Isomerism
Polysplenia, Abdominal situs ambiguus, Asplenia OMIM:208530
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Absent gallbladder, Patent ductus arteriosus, Asplenia ORPHA:210122
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Asplenia, Abdominal situs inversus OMIM:619123
Fraser Syndrome 1
Myelomeningocele, Anophthalmia, Bilateral microphthalmos, Cutaneous finger syndactyly, Encephaloc... OMIM:219000
Charge Syndrome
Absent tibia, Bilateral talipes equinovarus, Hand polydactyly, Anophthalmia, Arrhinencephaly, Uni... OMIM:214800
Microphthalmia With Linear Skin Defects Syndrome
Growth delay, Severe short stature, Anophthalmia, Microphthalmia ORPHA:2556
Primary Ciliary Dyskinesia
Polysplenia, Asplenia ORPHA:244
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Fraser Syndrome
Myelomeningocele, Anophthalmia, Umbilical hernia, Microphthalmia, Encephalocele, Finger syndactyl... ORPHA:2052
Mosaic Trisomy 9
Abnormal liver lobulation, Cryptorchidism, Patent ductus arteriosus, Asplenia ORPHA:99776
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Lead Poisoning
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Imbalanced hemo... ORPHA:330015
Branchiooculofacial Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Anophthalmia, Short thumb, Branchial anomaly, Pro... OMIM:113620
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:141750
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... OMIM:260400
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Anemia, Abnormal hemoglobin ORPHA:847
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... ORPHA:124
Truncus Arteriosus
Hypoplasia of the thymus, Patent ductus arteriosus, Adrenocortical abnormality ORPHA:3384
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Asplenia OMIM:619657
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Wiedemann-Rautenstrauch Syndrome
Increased serum testosterone level, Hypoplasia of the thymus, Cryptorchidism OMIM:264090
Microphthalmia, Syndromic 6
Flexion contracture of thumb, Clinodactyly of the 5th finger, Anophthalmia, Polydactyly, Brachyda... OMIM:607932
Monosomy 22
Hepatosplenomegaly, Hypochromic microcytic anemia, Aplasia of the thymus ORPHA:96123
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:301040
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Biliary atresia, Abdominal situs inversus, Patent ductus arteriosus, Polysplenia, A... OMIM:306955
Microphthalmia, Syndromic 1
Prominent fingertip pads, Anophthalmia, Syndactyly, Camptodactyly, Clinodactyly, Microphthalmia, ... OMIM:309800
Craniofacial Microsomia
Microphthalmia, Partial duplication of thumb phalanx, Anophthalmia, Genu valgum, Branchial anomal... OMIM:164210
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Pulmonary lymphangiectasia, Patent ductus arteriosus, Asplenia OMIM:265380
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Heterotaxy, Visceral, 5, Autosomal
Patent ductus arteriosus, Abdominal situs ambiguus, Asplenia, Abdominal situs inversus OMIM:270100
Pseudoaminopterin Syndrome
Cryptorchidism, Asplenia ORPHA:221120
Proteus Syndrome
Lymphangioma, Ovarian neoplasm, Splenomegaly, Neoplasm of the thymus, Testicular neoplasm, Thymus... ORPHA:744
Mowat-Wilson Syndrome
Hydrocele testis, Cryptorchidism, Patent ductus arteriosus, Asplenia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hydrocele testis, Cryptorchidism, Patent ductus arteriosus, Asplenia ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hydrocele testis, Cryptorchidism, Asplenia 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.

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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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