Gene: Snrnp27 MGI:1913868

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Gene Summary

Name:
small nuclear ribonucleoprotein 27 (U4/U6.U5)
Synonyms:
2610209M04Rik

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 esophagus morphology Snrnp27tm1b(EUCOMM)Wtsi HET Early adult 0.00
preweaning lethality, complete penetrance Snrnp27tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Snrnp27tm1b(EUCOMM)Wtsi HOM   E12.5 0.00
embryonic lethality prior to organogenesis Snrnp27tm1b(EUCOMM)Wtsi HOM   E9.5 0.00
hyperactivity Snrnp27tm1b(EUCOMM)Wtsi HET Early adult 3.40×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
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)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 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 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 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)
Parathyroid gland N/A heterozygote 0.0% (0 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 50% (1 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 50% (1 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 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%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
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)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
uterus 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

VIP of right fundus

15 Images

Eye Morphology

VIP of left fundus

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Eye Morphology

VIP of left eye

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

Eye Morphology

VIP of right eye

15 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Human diseases caused by Snrnp27 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 Snrnp27 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Odontoma-Dysphagia Syndrome
Dysphagia, Abnormal esophagus morphology OMIM:164330
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Eosinophilic Esophagitis
Esophageal stenosis, Spontaneous esophageal perforation, Dysphagia, Gastroesophageal reflux, Abno... ORPHA:73247
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Barrett Esophagus
Esophageal carcinoma, Esophageal ulceration, Gastroesophageal reflux, Barrett esophagus OMIM:614266
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Carcinoma Of Esophagus
Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Abnormal intestine morphology, Barrett e... ORPHA:70482
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Cirrhosis, Familial
Lethargy, Esophageal varix OMIM:215600
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophagitis, Eosinophilic microabscess formation in the esophagus, Esophageal stenosis, Esophagea... ORPHA:411696
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Dystonia, Esophageal varix, Ataxia, Gastrointestinal hemorrhage OMIM:617341
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Abnormal la... ORPHA:2198
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Intellectual Developmental Disorder, X-Linked 104
High palate, Ataxia, Hyperactivity OMIM:300983
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Mental Retardation, Autosomal Dominant 43
Gastroesophageal reflux, Hyperactivity OMIM:616977
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Gastroesophageal reflux, Hyperactivity OMIM:300434
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Rubinstein-Taybi Syndrome 2
High palate, Narrow palate, Intestinal malrotation, Hyperactivity OMIM:613684
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Esophageal stricture, Dysphagia, Abnormal esophagus morphology, Spontaneous esophageal perforation OMIM:226600
Retinitis Pigmentosa 89
Esophageal varix OMIM:618955
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Cholesteryl Ester Storage Disease
Esophageal varix ORPHA:75234
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Alazami-Yuan Syndrome
High palate, Hyperactivity OMIM:617126
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Intellectual Developmental Disorder, X-Linked 30
High palate, Hyperactivity OMIM:300558
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Hyperactivity OMIM:618342
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Esophageal varix, Malabsorption, Intes... ORPHA:131
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Morphological abnormality of the gastrointestinal tract, Esophageal stenosis, Dysphagia, Gastroes... ORPHA:1018
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Noonan Syndrome 7
Dysphagia, Abnormal esophagus morphology, Impaired oropharyngeal swallow response OMIM:613706
Bronchogenic Cyst
Dysphagia, Abnormal stomach morphology, Abnormal esophagus morphology ORPHA:2357
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Wolman Disease
Steatorrhea, Esophageal varix ORPHA:75233
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Gastroesophageal reflux, Broad-based gait, Hyperactivity OMIM:617865
Fanconi Anemia, Complementation Group Q
Esophageal atresia OMIM:615272
Mental Retardation, Autosomal Recessive 61
High palate, Hyperactivity OMIM:617773
Plummer-Vinson Syndrome
Dysphagia, Esophageal web, Glossitis, Tongue atrophy ORPHA:54028
Gastrointestinal Stromal Tumor
Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestinal hemorrhag... ORPHA:44890
Clark-Baraitser Syndrome
High palate, Hyperactivity OMIM:617752
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Narrow palate, Hyperactivity OMIM:615516
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Duodenal atresia, Tracheoesophageal fistula, Attention deficit hyperactivity ... OMIM:619227
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Rhombencephalosynapsis
Aganglionic megacolon, Esophageal atresia, Ataxia, Anal atresia, Tracheoesophageal fistula ORPHA:59315
Dyskeratosis Congenita, Autosomal Dominant 6
Oral leukoplakia, Esophageal stenosis OMIM:616553
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Barrett esophagus ORPHA:523
Methimazole Embryofetopathy
Tracheoesophageal fistula, Esophageal atresia ORPHA:1923
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Dysphagia, Hyperactivity ORPHA:500180
Adams-Oliver Syndrome 6
Esophageal varix OMIM:616589
X-Linked Creatine Transporter Deficiency
Dystonia, Aganglionic megacolon, Ataxia, Ileus, Hyperactivity, Athetosis ORPHA:52503
Systemic Sclerosis
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Dysp... ORPHA:90291
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of... ORPHA:2869
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Coffin-Siris Syndrome 11
Bifid uvula, High palate, Cleft soft palate, Esophageal atresia OMIM:618779
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Ankyloglossia, Esophageal stenosis, Dysphagia, Gastroesophageal reflux, Abnormal esophagus morpho... ORPHA:89842
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Caroli Disease, Isolated
Esophageal varix OMIM:600643
Non-Syndromic Posterior Hypospadias
Anal atresia, Esophageal atresia, Cleft palate ORPHA:95706
Benign Schwannoma
Abnormal parotid gland morphology, Abnormal esophagus morphology, Intestinal polyposis ORPHA:252164
Fanconi Anemia, Complementation Group L
Tracheoesophageal fistula, Anal atresia, Esophageal atresia, Cleft palate OMIM:614083
Cryptosporidiosis
Dysphagia, Abnormal esophagus morphology, Gastrointestinal obstruction ORPHA:1549
Gand Syndrome
Hyperactivity OMIM:615074
Aspergillosis
Abnormal esophagus morphology ORPHA:1163
Chromosome 15Q25 Deletion Syndrome
Cleft palate, Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Glycogen Storage Disease Iv
Esophageal varix OMIM:232500
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Wilson Disease
Dysphagia, Dystonia, Hepatocellular carcinoma, Esophageal varix OMIM:277900
Histidinemia
Hyperactivity ORPHA:2157
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Cleft palate, Broad-based gait, Hyperactivity OMIM:300958
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Coach Syndrome 1
Dystonia, Esophageal varix, Ataxia OMIM:216360
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Dystonia, Truncal ataxia, Difficulty walking, Gait disturbance, Bradykinesia,... ORPHA:309854
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Esophageal varix OMIM:614576
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
Intellectual Developmental Disorder, X-Linked 98
Gastroesophageal reflux, Ataxia, Hyperactivity OMIM:300912
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Submucous cleft hard palate, Hyperactivity OMIM:619239
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia OMIM:226730
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity OMIM:271980
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia OMIM:614526
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Esophageal stricture ORPHA:79409
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Unsteady gait, Gastroesophageal reflux, Hyperactivity ORPHA:485350
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Gait ataxia, Ataxia, Hyperactivity ORPHA:363400
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:1929
Lysosomal Acid Lipase Deficiency
Esophageal varix, Steatorrhea OMIM:278000
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture ORPHA:158673
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Mend Syndrome
High palate, Hyperactivity OMIM:300960
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Esophagitis, Perineal fistula, Gastroesophageal reflux, Intestinal malrotation, Es... ORPHA:2538
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Hyperactivity OMIM:609727
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Tracheoesophageal fistula, Esophageal atresia ORPHA:77298
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Adams-Oliver Syndrome
Esophageal varix, Gastrointestinal hemorrhage ORPHA:974
Fragile X Syndrome
Hyperactivity OMIM:300624
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Myoclonic-Astatic Epilepsy
Unsteady gait, Attention deficit hyperactivity disorder, Ataxia, Hyperactivity ORPHA:1942
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Esophageal varix OMIM:263200
Fanconi Anemia, Complementation Group B
Duodenal atresia, Tracheoesophageal fistula, Esophageal atresia OMIM:300514
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Dysphagia, Bradykinesia, Dysmetria, Hyperactivity OMIM:610217
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Lactose intolerance, Intestinal polyp, Hyperactivity ORPHA:457485
Intellectual Disability, Birk-Barel Type
Dysphagia, High, narrow palate, Hyperactivity ORPHA:166108
Feingold Syndrome
Duodenal atresia, Esophageal atresia ORPHA:1305
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Esophageal varix ORPHA:367
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Hepatocellular carcinoma, Esophageal varix ORPHA:370
Cartilage-Hair Hypoplasia
Malabsorption, Aganglionic megacolon, Esophageal atresia OMIM:250250
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Hyperactivity OMIM:610883
Septo-Optic Dysplasia Spectrum
Tracheoesophageal fistula, Esophageal atresia, Cleft palate ORPHA:3157
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity ORPHA:35069
Maternal Phenylketonuria
High palate, Esophageal atresia, Hyperactivity ORPHA:2209
Adams-Oliver Syndrome 5
Esophageal varix OMIM:616028
Dyskeratosis Congenita, Autosomal Dominant 2
Esophageal stricture OMIM:613989
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Dysphagia, Ataxia, Protruding tongue, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
Immunodeficiency 23
Esophageal stricture, High palate, Ataxia OMIM:615816
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Esophageal varix ORPHA:264580
Apert Syndrome
Narrow palate, Esophageal atresia, Ectopic anus, Cleft palate, Bifid uvula ORPHA:87
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Dysphagia, Gait disturbance, Ataxia, Dysmetria, Hyperactivity ORPHA:139396
Apert Syndrome
Narrow palate, Esophageal atresia, Ectopic anus, Cleft palate, Bifid uvula, Pyloric stenosis OMIM:101200
Mandibulofacial Dysostosis, Guion-Almeida Type
Esophageal atresia, Cleft palate OMIM:610536
Kindler Syndrome
Oral leukoplakia, Dysphagia, Esophageal stenosis, Anal stenosis OMIM:173650
Angelman Syndrome
Macroglossia, Progressive gait ataxia, Protruding tongue, Hyperactivity, Broad-based gait OMIM:105830
Chronic Graft Versus Host Disease
Dysphagia, Gastroesophageal reflux, Abnormal esophagus morphology, Esophageal stricture, Xerostom... ORPHA:99921
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Mirage Syndrome
Gastroesophageal reflux, Achalasia, Esophageal stricture OMIM:617053
Feingold Syndrome Type 1
Gastrointestinal atresia, Jejunal atresia, Esophageal atresia, Duodenal atresia, Anal atresia ORPHA:391641
Dyskeratosis Congenita
Oral leukoplakia, Esophageal stenosis, Anorectal anomaly, Malabsorption, Tracheoesophageal fistula ORPHA:1775
Purine Nucleoside Phosphorylase Deficiency
Unusual gastrointestinal infection, Ataxia, Hyperactivity ORPHA:760
Hereditary Hemorrhagic Telangiectasia
Esophageal varix, Intestinal polyposis, Gastrointestinal hemorrhage ORPHA:774
X-Linked Adrenoleukodystrophy
Gait disturbance, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Caroli Disease
Esophageal varix, Cholangiocarcinoma ORPHA:53035
Glass Syndrome
High palate, Cleft palate, Broad-based gait, Hyperactivity OMIM:612313
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Esophageal diverticulum, Anal atresia, Hamartoma of tongue, Cleft palate OMIM:617925
Mucopolysaccharidosis, Type Iiic
Dysphagia, Hyperactivity OMIM:252930
Classic Homocystinuria
High palate, Esophageal varix, Gastrointestinal hemorrhage ORPHA:394
Distal Monosomy 12Q
Esophageal atresia, Duodenal atresia, Microglossia, Hyperactivity, High, narrow palate, Pyloric s... ORPHA:96149
Fanconi Anemia, Complementation Group D2
Tracheoesophageal fistula, Esophageal atresia, Attention deficit hyperactivity disorder OMIM:227646
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
Dyskeratosis Congenita, Autosomal Recessive 1
Oral leukoplakia, Esophageal stricture OMIM:224230
Vacterl With Hydrocephalus
Tracheoesophageal fistula, Anal atresia, Esophageal atresia ORPHA:3412
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
Feingold Syndrome 1
High palate, Duodenal atresia, Tracheoesophageal fistula, Esophageal atresia OMIM:164280
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Esophageal varix, Ataxia OMIM:615688
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Gastroesophageal reflux, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:449291
Mucopolysaccharidosis, Type Iiid
Dysphagia, Hyperactivity OMIM:252940
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Dysphagia, Esophageal stricture, Colitis, Abnor... ORPHA:2908
Angelman Syndrome
Inability to walk, Abnormality of the gastrointestinal tract, Dysphagia, Gastroesophageal reflux,... ORPHA:72
Microphthalmia, Syndromic 3
Esophageal atresia OMIM:206900
Caroli Syndrome
Hematemesis, Esophageal varix, Cholangiocarcinoma, Melena ORPHA:480520
Trisomy 18
Anal atresia, Narrow palate, Esophageal atresia, Cleft palate ORPHA:3380
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Esophageal varix, Protein-losing enteropathy, Cholangiocarcinoma, Fa... ORPHA:731
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Limb ataxia, Gastric ulcer, Esophageal varix, Broad-based gait ORPHA:2072
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Dysphagia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity OMIM:234200
Hyperlysinemia
Dysphagia, Gastroesophageal reflux, Dysmetria, Hyperactivity, High palate, Tip-toe gait ORPHA:2203
Fryns Syndrome
Meckel diverticulum, Intestinal malrotation, Esophageal atresia, Aganglionic megacolon, Duodenal ... OMIM:229850
Nijmegen Breakage Syndrome
Anal stenosis, Anal atresia, Cleft palate, Hyperactivity, Recurrent infection of the gastrointest... OMIM:251260
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Gastroesophageal reflux, Ataxia, Unsteady gait, Dysmetria, Hyperactivity OMIM:614756
Lysosomal Acid Lipase Deficiency
Esophageal varix, Steatorrhea ORPHA:275761
Stevens-Johnson Syndrome
Dysphagia, Gastrointestinal hemorrhage, Esophageal stricture ORPHA:36426
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Ankyloglossia, Gastrointestinal inflammation, Dysphagia, Gastroesophageal reflux, Esophageal ulce... ORPHA:79408
Progeroid Short Stature With Pigmented Nevi
Esophageal ulceration OMIM:176690
Hepatocellular Carcinoma
Abnormal rectum morphology, Esophageal varix ORPHA:88673
Dyskeratosis Congenita, X-Linked
Esophageal stricture, Oral leukoplakia, Ataxia, Anal mucosal leukoplakia OMIM:305000
Gabriele-De Vries Syndrome
Dystonia, Esophageal atresia, Oral-pharyngeal dysphagia, Waddling gait, High palate, Attention de... ORPHA:506358
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Intestinal malrotation, Esophageal atresia, Duodenal atresia, Anal atresia, ... OMIM:265380
Argininemia
Spastic gait, Hyperactivity OMIM:207800
Charge Syndrome
Anal stenosis, Dysphagia, Esophageal atresia, Duodenal atresia, Anal atresia, Cleft palate, Trach... OMIM:214800
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Esophageal stricture ORPHA:79404
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Dysphagia, Gastroesophageal reflux, Hyperactivity ORPHA:447997
Vater/Vacterl Association
Tracheoesophageal fistula, Anal atresia, Esophageal atresia OMIM:192350
Choreoacanthocytosis
Dysphagia, Blepharospasm, Bradykinesia, Lingual dystonia, Laryngeal dystonia, Progressive inabili... ORPHA:2388
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Ectopic anus, Anal atresia, Bifid tongue, Esophageal atresia ORPHA:93271
Alström Syndrome
Esophageal varix, Gastroesophageal reflux, Ataxia ORPHA:64

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 Snrnp27

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 Snrnp27.

No publications found that use IMPC mice or data for Snrnp27.

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MGI Allele Allele Type Produced
Snrnp27tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Snrnp27tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue

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