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Gene: Snrnp27 MGI:1913868

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
embryonic lethality prior to tooth bud stage Snrnp27tm1b(EUCOMM)Wtsi HOM   E12.5 0.00
hyperactivity Snrnp27tm1b(EUCOMM)Wtsi HET Early adult 3.30×10-08
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 organogenesis Snrnp27tm1b(EUCOMM)Wtsi HOM   E9.5 0.00
decreased fasting circulating glucose level Snrnp27tm1b(EUCOMM)Wtsi HET Early adult 9.98×10-05

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)
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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 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%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 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%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
uterus 0.0%
vas deferens Unavailable
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.

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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Eye Morphology

VIP of right eye

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Eye Morphology

VIP of left fundus

14 Images

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Eye Morphology

VIP of left eye

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Eye Morphology

VIP of right fundus

14 Images

View 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
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Schizophrenia 15
Hyperactivity OMIM:613950
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Barrett Esophagus
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... ORPHA:411696
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Gastroesophageal reflux, Compulsive behaviors, Attention deficit hyperactivity dis... OMIM:619927
Hartnup Disorder
Hyperactivity, Glossitis, Attention deficit hyperactivity disorder OMIM:234500
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Portal Hypertension, Noncirrhotic, 1
Esophageal varix OMIM:617068
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Gastroesophageal reflux, Attention deficit hyperactivity disorder OMIM:617182
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Plummer-Vinson Syndrome
Tongue atrophy, Geophagia, Esophageal web, Dysphagia, Glossitis ORPHA:54028
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Esophageal stricture, Abnormal esophagus morphology, Dysphagia OMIM:226600
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Narrow palate, Recurrent hand flapping, Self-mutilation OMIM:615516
Retinitis Pigmentosa 89
Esophageal varix OMIM:618955
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Cholesteryl Ester Storage Disease
Esophageal varix ORPHA:75234
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Noonan Syndrome 7
Impaired oropharyngeal swallow response, Abnormal esophagus morphology, Dysphagia OMIM:613706
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morphology, Gastroe... ORPHA:1018
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... OMIM:617600
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Esophageal varix, Gastrointes... ORPHA:131
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Esophageal varix OMIM:617341
Portal Hypertension, Noncirrhotic, 2
Esophageal varix, Hepatocellular carcinoma OMIM:619463
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Esophageal stricture, Gastroesophageal reflux, Dysphagia, Anky... ORPHA:89842
Ectodermal Dysplasia/Short Stature Syndrome
Esophageal stricture, Dysphagia OMIM:616029
Wolman Disease
Esophageal varix, Steatorrhea ORPHA:75233
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Dyskeratosis Congenita, Autosomal Dominant 6
Esophageal stenosis, Oral leukoplakia OMIM:616553
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Polydipsia ORPHA:3157
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Attention deficit hyp... OMIM:619227
Adams-Oliver Syndrome 6
Esophageal varix OMIM:616589
Methimazole Embryofetopathy
Esophageal atresia, Tracheoesophageal fistula ORPHA:1923
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Aggressive behavior, Self-injurious behavior, Gastroesophageal ... ORPHA:449291
Aspergillosis
Abnormal esophagus morphology ORPHA:1163
Glycogen Storage Disease Iv
Esophageal varix OMIM:232500
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma ORPHA:64743
Coffin-Siris Syndrome 11
Esophageal atresia, High palate, Bifid uvula, Cleft soft palate OMIM:618779
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Anal atresia, Cleft palate ORPHA:95706
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Esophageal varix OMIM:614576
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Esophageal atresia OMIM:615272
Dyskeratosis Congenita, Autosomal Recessive 8
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture OMIM:620133
Rhombencephalosynapsis
Esophageal atresia, Aganglionic megacolon, Tracheoesophageal fistula, Anal atresia ORPHA:59315
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Esophageal varix, Hepatocellular adenoma, Fasting hypoglycemia, Hypoglycemia ORPHA:264580
Senior-Boichis Syndrome
Aggressive behavior, Esophageal varix, Agitation, Attention deficit hyperactivity disorder, Polyd... ORPHA:84081
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate OMIM:614526
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Esophageal atresia, Tracheoesophageal fistula, Anal atresia OMIM:314390
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... ORPHA:2538
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture ORPHA:158673
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Esophageal varix ORPHA:367
Coach Syndrome 1
Esophageal varix OMIM:216360
Cholesteryl Ester Storage Disease
Esophageal varix, Steatorrhea OMIM:278000
Phosphoribosylaminoimidazole Carboxylase Deficiency
Esophageal atresia, Tracheoesophageal fistula OMIM:619859
Mirage Syndrome
Achalasia, Gastroesophageal reflux, Esophageal stricture, Hypoglycemia OMIM:617053
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Tracheoesophageal fistula ORPHA:77298
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Achalasia, Esophageal stenosis, Dysphagia OMIM:615510
Cirrhosis, Familial
Esophageal varix OMIM:215600
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Esophageal varix ORPHA:974
Cholestasis, Progressive Familial Intrahepatic, 8
Esophageal varix OMIM:619662
Fanconi Anemia, Complementation Group B
Esophageal atresia, Tracheoesophageal fistula, Duodenal atresia OMIM:300514
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Gastrointestinal inflammation ORPHA:79409
Benign Schwannoma
Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology ORPHA:252164
Adams-Oliver Syndrome 5
Esophageal varix OMIM:616028
Van Esch-O'Driscoll Syndrome
Impulsivity, Esophageal atresia, Tracheoesophageal fistula, Attention deficit hyperactivity disor... OMIM:301030
Dyskeratosis Congenita
Esophageal stenosis, Diabetes mellitus, Malabsorption, Anorectal anomaly, Tracheoesophageal fistu... ORPHA:1775
Distal Deletion 12Q
Hyperactivity, Diabetes mellitus, Maturity-onset diabetes of the young, High, narrow palate, Esop... ORPHA:96149
Kindler Syndrome
Anal stenosis, Esophageal stenosis, Oral leukoplakia, Dysphagia OMIM:173650
Fanconi Anemia, Complementation Group L
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Attention deficit hyperactivity diso... OMIM:614083
Feingold Syndrome
Esophageal atresia, Duodenal atresia ORPHA:1305
Classic Homocystinuria
Gastrointestinal hemorrhage, Esophageal varix, High palate, Anorexia ORPHA:394
Caroli Disease
Cholangiocarcinoma, Esophageal varix, Anorexia ORPHA:53035
Chronic Graft Versus Host Disease
Anorexia, Esophageal stricture, Xerostomia, Abnormal esophagus morphology, Gastroesophageal reflu... ORPHA:99921
Cartilage-Hair Hypoplasia
Esophageal atresia, Anal stenosis, Aganglionic megacolon, Malabsorption OMIM:250250
Histidinemia
Hyperactivity ORPHA:2157
Maternal Phenylketonuria
Esophageal atresia, Hyperactivity, High palate ORPHA:2209
Apert Syndrome
Esophageal atresia, Cleft palate, Narrow palate, Ectopic anus, Bifid uvula ORPHA:87
Immunodeficiency 12
Esophageal stricture OMIM:615468
Mandibulofacial Dysostosis, Guion-Almeida Type
Esophageal atresia, Cleft palate OMIM:610536
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Type I diabetes mellitus, Esophageal varix, Agitation OMIM:615688
Wilson Disease
Hepatocellular carcinoma, Glycosuria, Esophageal varix, Dysphagia OMIM:277900
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Esophageal varix OMIM:263200
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Esophageal varix, Gastrointestinal hemorrhage ORPHA:774
Dyskeratosis Congenita, Autosomal Recessive 1
Esophageal stricture, Oral leukoplakia OMIM:224230
Feingold Syndrome Type 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia ORPHA:391641
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Intestinal malrotation, Esophageal varix, Gastroesophageal reflux, High palate OMIM:613658
Dyskeratosis Congenita, Autosomal Dominant 2
Esophageal stricture, Oral leukoplakia OMIM:613989
Immunodeficiency 23
Esophageal stricture, High palate OMIM:615816
Apert Syndrome
Pyloric stenosis, Esophageal atresia, Narrow palate, Cleft palate, Ectopic anus, Bifid uvula OMIM:101200
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Esophageal varix, Fat malabsorption, Protein-los... ORPHA:731
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Esophageal diverticulum, Cleft palate, Hamartoma of tongue, Anal atresia OMIM:617925
Vacterl With Hydrocephalus
Esophageal atresia, Tracheoesophageal fistula, Anal atresia ORPHA:3412
Kindler Epidermolysis Bullosa
Esophageal stricture, Inflammation of the large intestine, Colitis, Esophagitis, Dysphagia, Abnor... ORPHA:2908
Fanconi Anemia, Complementation Group D2
Esophageal atresia, Tracheoesophageal fistula, Attention deficit hyperactivity disorder OMIM:227646
Feingold Syndrome 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa... OMIM:164280
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Esophageal varix, Bilater... OMIM:301068
Arima Syndrome
Polydipsia, Esophageal varix OMIM:243910
Caroli Syndrome
Melena, Cholangiocarcinoma, Esophageal varix, Hematemesis ORPHA:480520
Trisomy 18
Esophageal atresia, Narrow palate, Anal atresia, Cleft palate ORPHA:3380
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Esophageal stricture, Dysphagia ORPHA:36426
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Meckel diverticu... OMIM:229850
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Esophageal varix ORPHA:309854
Lysosomal Acid Lipase Deficiency
Esophageal varix, Steatorrhea ORPHA:275761
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Congenital s... OMIM:265380
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Gastric ulcer, Esophageal varix, Abnormal temper tantrums ORPHA:2072
Progeroid Short Stature With Pigmented Nevi
Esophageal ulceration, Diabetes mellitus OMIM:176690
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cleft soft palate, Impulsivity, Esophageal varix, Bruxism, Stereotypical body rocking, High palat... OMIM:619503
Congenital Tracheomalacia
Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula ORPHA:95430
Gabriele-De Vries Syndrome
Esophageal atresia, High palate, Attention deficit hyperactivity disorder, Oral-pharyngeal dysphagia ORPHA:506358
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Anal fissure, Gastrointestinal inflammation, Gastroesophageal reflux, Dysphagia, Esophageal ulcer... ORPHA:79408
Microphthalmia, Syndromic 3
Esophageal atresia OMIM:206900
Dyskeratosis Congenita, X-Linked
Esophageal stricture, Oral leukoplakia, Anal mucosal leukoplakia OMIM:305000
Charge Syndrome
Anal stenosis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Dysphagia, Self-mutil... OMIM:214800
Severe Generalized Junctional Epidermolysis Bullosa
Esophageal stricture, Gastrointestinal inflammation ORPHA:79404
Vater/Vacterl Association
Esophageal atresia, Tracheoesophageal fistula, Anal atresia OMIM:192350
Biliary, Renal, Neurologic, And Skeletal Syndrome
Gastroesophageal reflux, Esophageal varix OMIM:619534
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Esophageal atresia, Ectopic anus, Bifid tongue, Anal atresia ORPHA:93271
Alström Syndrome
Insulin resistance, Esophageal varix, Hyperinsulinemia, Gastroesophageal reflux, Type II diabetes... 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.

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
Snrnp27tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Snrnp27tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Snrnp27tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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