Gene Summary

Name:
ELAV (embryonic lethal, abnormal vision)-like 1 (Hu antigen R)
Synonyms:
Hua,  2410055N02Rik,  W91709,  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
edema Elavl1tm1b(EUCOMM)Hmgu HOM E15.5 0.00
embryonic growth retardation Elavl1tm1b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal embryo size Elavl1tm1b(EUCOMM)Hmgu HOM E15.5 0.00
abnormal limb morphology Elavl1tm1b(EUCOMM)Hmgu HOM E15.5 0.00
anophthalmia Elavl1tm1b(EUCOMM)Hmgu HOM E15.5 0.00
impaired pupillary reflex Elavl1tm1b(EUCOMM)Hmgu HET Early adult 1.81×10-10

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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
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 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Gross Morphology Embryo E9.5

Images

4 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

31 Images

Gross Morphology Embryo E12.5

Images

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Morphology Embryo E14.5-E15.5

Images

1 Images

Auditory Brain Stem Response

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

7 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
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Placental Insufficiency
Maternal hypertension, Proportionate short stature, Preeclampsia, Eclampsia, Intrauterine growth ... ORPHA:439167
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Edema, Microphthalmia, Intrauterine growth retardation, Talipes equinovarus OMIM:616570
Acute Zonal Occult Outer Retinopathy
Vitritis, Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal pigment epithelial... ORPHA:284454
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Microphallus, Abnormality of the scrotum, Bifid scrotum, Oligohydramnios, Postnat... ORPHA:397590
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Postnatal growth retardation, Severe intrauterine growth retardation, Short stature, Small placen... ORPHA:73272
Cherubism
Marcus Gunn pupil, Macular scar, Optic neuropathy OMIM:118400
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Polydactyly, Microphthalmia, Anophthalmia, Talipes equinovarus OMIM:613885
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Large placenta, Polyhydramnios, Umbilical hernia ORPHA:254534
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Growth delay, Foo... OMIM:206920
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Trisomy 13
Postaxial hand polydactyly, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Anop... ORPHA:3378
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Fetal Akinesia Deformation Sequence 1
Polyhydramnios, Cryptorchidism, Short umbilical cord, Stillbirth, Fetal akinesia sequence, Premat... OMIM:208150
Anophthalmia Plus Syndrome
Spina bifida, Anophthalmia, Deviation of finger ORPHA:1104
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Monocytosis, Lymphopenia, Patent ductus arteriosus, Neutrop... OMIM:612541
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Hydrolethalus
Polyhydramnios, Postaxial hand polydactyly, Microphthalmia, Anophthalmia, Micromelia ORPHA:2189
Trisomy 1Q
Polyhydramnios, Camptodactyly of finger, Preaxial hand polydactyly, Toe syndactyly, Hydrops fetal... ORPHA:261344
Fibular Hemimelia
Bowing of the legs, Anophthalmia, Abnormality of fibula morphology, Proximal femoral focal defici... ORPHA:93323
Neu-Laxova Syndrome 1
Polyhydramnios, Cryptorchidism, Bifid uterus, Spina bifida, Short umbilical cord, Stillbirth, Dec... OMIM:256520
Gastrointestinal Defects And Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Interface hepatitis, Hypoplasia of the thymus OMIM:243150
Matthew-Wood Syndrome
Intrauterine growth retardation, Microphthalmia, Anophthalmia ORPHA:2470
Mirage Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Lymphopenia, Patent ductus arteriosus, Thrombocyt... OMIM:617053
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Large placenta, Postnatal growth retardation, Umbilical hernia, Intrauterine grow... ORPHA:254528
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Postaxial foot polydactyly, Microphthalmia, Anophthalmia, Proximal placement o... ORPHA:139471
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Microphthalmia, Anophthalmia OMIM:615877
Solitary Median Maxillary Central Incisor
Microphthalmia, Short stature, Anophthalmia OMIM:147250
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia ORPHA:563609
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Short stature, Anophthalmia OMIM:610125
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia ORPHA:90322
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia ORPHA:66625
Restrictive Dermopathy
Polyhydramnios, Short umbilical cord, Large placenta, Decreased fetal movement, Premature birth, ... ORPHA:1662
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Microphthalmia, Anophthalmia ORPHA:77298
Vacterl With Hydrocephalus
Polyhydramnios, Hypoplasia of the radius, Spina bifida, Microphthalmia, Anophthalmia, Intrauterin... ORPHA:3412
Mosaic Trisomy 16
Maternal diabetes, Preeclampsia, Large placenta, Single umbilical artery, Premature birth, Intrau... ORPHA:1708
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Intrahepatic biliary dysgenesis, Hypoplasia of the thymus, Jaundice, Hepatomegaly OMIM:214110
Microphthalmia, Syndromic 3
Postnatal growth retardation, Optic nerve hypoplasia, Microphthalmia, Short stature, Anophthalmia OMIM:206900
Microphthalmia, Syndromic 9
Cryptorchidism, Multilobulated spleen, Hypoplastic spleen, Patent ductus arteriosus OMIM:601186
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Primary adrenal insufficien... OMIM:269200
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Pulmonary edema OMIM:617300
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Generalized edema OMIM:618773
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Kagami-Ogata Syndrome
Polyhydramnios, Large placenta, Premature birth, Postnatal growth retardation ORPHA:254519
Trichohepatoenteric Syndrome 1
Polyhydramnios, Large placenta, Abnormalities of placenta or umbilical cord, Short stature, Intra... OMIM:222470
Pearson Syndrome
Exocrine pancreatic insufficiency, Hypoparathyroidism, Reticulocytosis, Hypothyroidism, Hepatic s... ORPHA:699
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Mild postnatal grow... OMIM:265300
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Lymphopenia, Aplasia of the thymus, Hepatosplenomegaly OMIM:242700
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Hypothyroidism, Lymphopenia, Patent ductus arteriosus, Increased mean ... ORPHA:84064
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia, Metatarsus valgus ORPHA:899
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Aniridia, Anophthalmia, Umbilical hernia, Ulnar deviation of finger, Tal... ORPHA:1101
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic fibrosis, Asplenia, Hepatomegaly, Cholestasis OMIM:615415
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Pancreatic cysts, Polysplenia, Hepatic cysts, Patent ductus arteriosus, Biliary cirrho... OMIM:208540
Ataxia-Telangiectasia
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Female hypog... OMIM:208900
Restrictive Dermopathy, Lethal
Polyhydramnios, Short umbilical cord, Premature rupture of membranes, Stillbirth, Decreased fetal... OMIM:275210
Meckel Syndrome, Type 1
Cryptorchidism, Abnormality of the uterus, Ambiguous genitalia, male, Oligohydramnios, Large plac... OMIM:249000
14Q22Q23 Microdeletion Syndrome
Short 4th metacarpal, Toe syndactyly, Finger syndactyly, Short 5th metacarpal, Anophthalmia, Shor... ORPHA:264200
Stormorken Syndrome
Thrombocytopenia, Asplenia, Howell-Jolly bodies, Anemia OMIM:185070
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Decreased circulating parathyroid hormone level, Male hypogonadism, Chronic active hepatitis, Pri... OMIM:240300
Autoimmune Polyendocrinopathy Type 3
Graves disease, Autoimmune thrombocytopenia, Anterior pituitary dysgenesis, Hypergonadotropic hyp... ORPHA:227982
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Lymphedema, Pleural effusion, Anophthalmia, Severe short stature, Edema, Microphthalmia, Chylothorax ORPHA:2526
Autoimmune Polyendocrinopathy Type 4
Autoimmune thrombocytopenia, Anterior pituitary dysgenesis, Hypergonadotropic hypogonadism, Bilia... ORPHA:227990
Microgastria-Limb Reduction Defect Syndrome
Oligodactyly, Absent hand, Abnormality of finger, Growth delay, Abnormality of the radius, Abnorm... ORPHA:2538
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Autoimmune hemolytic anemia, Hashimoto thyroiditis, Hypoplasia of the thymus,... ORPHA:436252
Cockayne Syndrome Type 1
Postnatal growth retardation, Anophthalmia ORPHA:90321
Meckel Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Oligohydramnios, Bowing of the long bones,... ORPHA:564
Microphthalmia With Limb Anomalies
Broad thumb, Tarsal synostosis, Sandal gap, Abnormality of the metacarpal bones, Postaxial hand p... ORPHA:1106
Holoprosencephaly
Hand polydactyly, Branchial anomaly, Spinal dysraphism, Microphthalmia, Anophthalmia, Brachydactyly ORPHA:2162
Microgastria-Limb Reduction Defects Association
Hypoplasia of the radius, Hypoplasia of the ulna, Hand oligodactyly, Anophthalmia, Absent thumb OMIM:156810
Lymphatic Malformation 6
Polyhydramnios, Lymphedema, Pleural effusion, Facial edema, Edema, Ascites, Short stature, Chylot... OMIM:616843
Charge Syndrome
Polyhydramnios, Abnormality of tibia morphology, Postnatal growth retardation, Delayed puberty, M... ORPHA:138
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Hemifacial Microsomia
Microphthalmia, Branchial anomaly, Anophthalmia OMIM:164210
Treacher-Collins Syndrome
Cryptorchidism, Patent ductus arteriosus, Hypoplasia of the thymus, Thyroid hypoplasia, Abnormali... ORPHA:861
Focal Dermal Hypoplasia
Aniridia, Postaxial hand polydactyly, Short metatarsal, Short phalanx of finger, Toe syndactyly, ... OMIM:305600
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia OMIM:605627
Wiskott-Aldrich Syndrome
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Hypoplasia of th... ORPHA:906
Holoprosencephaly 9
Postaxial hand polydactyly, Optic nerve hypoplasia, Microphthalmia, Short stature, Anophthalmia OMIM:610829
Eec Syndrome
Hypoplasia of the thymus, Anterior hypopituitarism, Decreased response to growth hormone stimuati... ORPHA:1896
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Cryptorchidism, Growth delay, Spinal dysraphism, Large placenta, Postnatal growth... ORPHA:96334
22Q11.2 Deletion Syndrome
Cryptorchidism, Hypothyroidism, Patent ductus arteriosus, Cholelithiasis, Thrombocytopenia, Hypop... ORPHA:567
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Microphthalmia, Syndromic 2
Radioulnar synostosis, 2-3 toe syndactyly, Umbilical hernia, Sandal gap, 2-3 toe cutaneous syndac... OMIM:300166
Beckwith-Wiedemann Syndrome
Polyhydramnios, Cryptorchidism, Gonadoblastoma, Large placenta, Umbilical hernia, Subchorionic se... ORPHA:116
Joubert Syndrome 21
Anophthalmia OMIM:615636
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Patent ductus arteriosus, Annular pancreas ORPHA:210122
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Polycystic ovaries ORPHA:2969
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Asplenia, Abdominal situs inversus OMIM:619123
Sweeney-Cox Syndrome
Asplenia, Bilateral cryptorchidism OMIM:617746
Microphthalmia With Linear Skin Defects Syndrome
Growth delay, Microphthalmia, Severe short stature, Anophthalmia ORPHA:2556
Fraser Syndrome 1
Bilateral microphthalmos, Cutaneous finger syndactyly, Aplasia/Hypoplasia of the thumb, Aplasia/H... OMIM:219000
Feingold Syndrome 1
Accessory spleen, Polysplenia, Patent ductus arteriosus, Asplenia, Annular pancreas OMIM:164280
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Right Atrial Isomerism
Polysplenia, Asplenia, Abdominal situs ambiguus OMIM:208530
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Umbilical hernia, Microphthalmia, Anophthalmia, Myelomeningocele ORPHA:2052
Charge Syndrome
Hand polydactyly, Hypoplasia of the ulna, Postnatal growth retardation, Umbilical hernia, Delayed... OMIM:214800
Mosaic Trisomy 9
Abnormal liver lobulation, Cryptorchidism, Asplenia, Patent ductus arteriosus ORPHA:99776
Heterotaxy, Visceral, 1, X-Linked
Polysplenia, Abdominal situs inversus, Patent ductus arteriosus, Biliary atresia, Asplenia OMIM:306955
Primary Ciliary Dyskinesia
Polysplenia, Asplenia ORPHA:244
Branchiooculofacial Syndrome
Preaxial hand polydactyly, Branchial anomaly, Postnatal growth retardation, Microphthalmia, Short... OMIM:113620
Truncus Arteriosus
Hypoplasia of the thymus, Adrenocortical abnormality, Patent ductus arteriosus ORPHA:3384
Microphthalmia, Syndromic 6
Flexion contracture of thumb, Preaxial hand polydactyly, Toe syndactyly, Finger syndactyly, Polyd... OMIM:607932
Monosomy 22
Hypochromic microcytic anemia, Aplasia of the thymus, Hepatosplenomegaly ORPHA:96123
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Microphthalmia, Syndromic 1
Camptodactyly, Growth delay, Radial deviation of finger, Clinodactyly, Syndactyly, Microphthalmia... OMIM:309800
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Pseudoaminopterin Syndrome
Cryptorchidism, Asplenia ORPHA:221120
Proteus Syndrome
Ovarian neoplasm, Thymus hyperplasia, Macroorchidism, Neoplasm of the thymus, Splenomegaly, Testi... ORPHA:744
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Patent ductus arteriosus, Pulmonary lymphangiectasia, Annular pancreas OMIM:265380
Mowat-Wilson Syndrome
Cryptorchidism, Hydrocele testis, Asplenia, Patent ductus arteriosus ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cryptorchidism, Hydrocele testis, Asplenia, Patent ductus arteriosus ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cryptorchidism, Hydrocele testis, 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
Elavl1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (post-Cre) Mice

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