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Gene: Snip1 MGI:2156003

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Gene Summary

Name:
Smad nuclear interacting protein 1
Synonyms:
2410133M08Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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
decreased circulating total protein level Snip1tm1a(EUCOMM)Wtsi HET Early adult 7.29×10-08
abnormal placement of pupils Snip1tm1a(EUCOMM)Wtsi HET Early adult 1.54×10-05
abnormal tail movements Snip1tm1a(EUCOMM)Wtsi HET   Early adult 7.93×10-06
decreased circulating iron level Snip1tm1a(EUCOMM)Wtsi HET Early adult 2.66×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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 Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote Ambiguous
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
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 Not available
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Not available
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 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 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 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.

Legacy Phenotype Associated Images
Snip1tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Snip1tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Snip1tm1a(EUCOMM)Wtsi
body, WT, Female, WTSI
Snip1tm1a(EUCOMM)Wtsi
forearm, WT, Female, WTSI
Snip1tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI

View all 314 images

Snip1tm1a(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HET, Female, WTSI
Snip1tm1a(EUCOMM)Wtsi
tail skin, WT, Female, WTSI
Snip1tm1a(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HET, Female, WTSI
Snip1tm1a(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HET, Female, WTSI
Snip1tm1a(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HET, Female, WTSI

View all 6 images

Snip1tm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI
Snip1tm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI
Snip1tm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI
Snip1tm1a(EUCOMM)Wtsi
WT, Unsexed, WTSI
Snip1tm1a(EUCOMM)Wtsi
WT, Unsexed, WTSI

Human diseases caused by Snip1 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.

The table below shows human diseases associated to Snip1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
OMIM:614501

The table below shows human diseases predicted to be associated to Snip1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... OMIM:601631
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Iridocorneal Endothelial Syndrome
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... ORPHA:64734
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Chorioretinal degeneration, I... ORPHA:98973
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Pierson Syndrome
Microcoria, Hypoproteinemia, Posterior lenticonus, Hypoplasia of the iris, Rieger anomaly, Hypopl... OMIM:609049
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Charcot-Marie-Tooth Disease Type 1B
Elevated circulating creatine kinase concentration, Abnormal pupil morphology ORPHA:101082
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon OMIM:602482
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Abnormal pupil morphology OMIM:160565
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Cataract OMIM:608093
Distal Monosomy 6P
Hypoplasia of the iris, Posterior embryotoxon, Corneal opacity, Abnormal anterior chamber morphol... ORPHA:96125
Gracile Syndrome
Increased serum iron, Increased circulating ferritin concentration, Increased serum pyruvate OMIM:603358
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... ORPHA:247585
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation ORPHA:85167
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Astigmatism, Cataract, Ectopia pupillae OMIM:618727
Omenn Syndrome
Hypoproteinemia OMIM:603554
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... OMIM:603553
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Dengue Fever
Hypoproteinemia ORPHA:99828
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f... ORPHA:26793
Facial Spasm
Anisocoria OMIM:134300
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Iris hypopigmentation, Ocular albinism ORPHA:54
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Polycoria, Hypoplasia of the iris, Elevated circulating creatine kinase c... OMIM:175780
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Anisocoria
Anisocoria OMIM:106240
Neonatal Hemochromatosis
Increased serum iron, Increased circulating ferritin concentration ORPHA:446
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae OMIM:618223
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Uveitis, Cor... OMIM:221900
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:79230
Chédiak-Higashi Syndrome
Hypoproteinemia, Hyponatremia, Increased circulating ferritin concentration, Iris hypopigmentatio... ORPHA:167
Hemochromatosis, Neonatal
Increased serum iron, Increased circulating ferritin concentration, Abnormality of iron homeostasis OMIM:231100
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Short Syndrome
Hypoplasia of the iris, Posterior embryotoxon, Abnormal pupil morphology, Corneal opacity, Megalo... ORPHA:3163
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Hemochromatosis, Type 2B
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:613313
Phacoanaphylactic Uveitis
Conjunctival hyperemia, Hypopyon, Posterior uveitis, Corneal keratic precipitates, Corneal stroma... ORPHA:209959
Coats Disease
Leukocoria OMIM:300216
Uveal Melanoma
Mydriasis, Zonular cataract, Iris melanoma, Inferior lens subluxation, Ciliary body melanoma ORPHA:39044
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Triopia
Abnormal pupil morphology, Microcornea, Iris coloboma ORPHA:3374
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Cataract, Elevated transferrin saturation OMIM:606069
Mental Retardation, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Familial Dysautonomia
Hyponatremia, Corneal erosion, Heterochromia iridis, Abnormal pupil morphology, Corneal opacity ORPHA:1764
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... ORPHA:67043
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea OMIM:251750
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Abnormal circulating phytanic acid concentration ORPHA:247815
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Increased circulating ferritin concentration, Unconjugated hyperbilirubinem... ORPHA:766
Hemochromatosis, Type 3
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:604250
Wolf-Hirschhorn Syndrome
Rieger anomaly, Ectopia pupillae, Iris coloboma OMIM:194190
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... ORPHA:91495
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Mowat-Wilson Syndrome
Chorioretinal coloboma, Iris coloboma, Cataract, Microcornea, Ectopia pupillae OMIM:235730
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... ORPHA:53693
Candidiasis, Familial, 2
Decreased serum iron OMIM:212050
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Posterior embryotoxon, Hypoplasia of the iris, Aniridia, Rieger anomaly, Megalocornea,... OMIM:180500
Proteus-Like Syndrome
Heterochromia iridis, Abnormal pupil morphology, Cataract, Limbal dermoid ORPHA:2969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Persistent pupillary membrane, Elevated circulating creatine kinase concentration, P... OMIM:613150
Duane Retraction Syndrome
Chorioretinal coloboma, Aniridia, Hypoplastic iris stroma, Iris coloboma, Central heterochromia, ... ORPHA:233
Aceruloplasminemia
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron OMIM:604290
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Alagille Syndrome
Abnormal pupil morphology, Corneal dystrophy, Keratoconus ORPHA:52
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
Infant Botulism
Mydriasis, Hyponatremia, Keratoconjunctivitis sicca ORPHA:178478
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Axenfeld anomaly, Iris coloboma, Iris atrophy, Abnormal pupil morphology, Cataract, Astigmatism, ... ORPHA:261552
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Gaisböck Syndrome
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Increased circulatin... ORPHA:90041
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Persistent pupillary membrane, Cataract OMIM:257850
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Hyperbilirubinemia, Increased total iron binding capacity OMIM:616278
Intestinal Botulism
Mydriasis ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Buphthalmos, Hypokalemia, Chorioretinal dysplasia, Hypophosphatemia, Hypercholester... ORPHA:534
Charcot-Marie-Tooth Disease Type 1E
Abnormal pupil morphology, Anisocoria ORPHA:90658
Iatrogenic Botulism
Mydriasis ORPHA:254509
Wound Botulism
Mydriasis ORPHA:178475
Inhalational Botulism
Mydriasis ORPHA:254504
Alacrima, Achalasia, And Mental Retardation Syndrome
Anisocoria OMIM:615510
Nephronophthisis 11
Anisocoria OMIM:613550
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Increased circulating ferritin concentration, Decreased transferrin saturat... ORPHA:300298
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria OMIM:231550
Revesz Syndrome
Leukocoria, Megalocornea OMIM:268130
Botulism
Mydriasis ORPHA:1267
Leptospirosis
Conjunctival hyperemia, Hyperproteinemia, Uveitis, Chorioretinitis ORPHA:509
Trichinellosis
Conjunctival hyperemia, Abnormal uvea morphology, Anisocoria, Conjunctivitis ORPHA:863
Foodborne Botulism
Mydriasis ORPHA:228371
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Oculo-Palato-Cerebral Syndrome
Leukocoria, Cataract ORPHA:2714
Pituitary Apoplexy
Mydriasis, Hyponatremia ORPHA:95613
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:465508
Norrie Disease
Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Sclerocornea, Anterior ch... ORPHA:649
Retinoblastoma
Heterochromia iridis, Hypopyon, Uveitis, Leukocoria ORPHA:790
Bickerstaff Brainstem Encephalitis
Mydriasis, Anisocoria ORPHA:79138
Serotonin Syndrome
Mydriasis ORPHA:43116
Charcot-Marie-Tooth Disease Type 4C
Anisocoria ORPHA:99949
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria OMIM:618653
Superficial Siderosis
Anisocoria ORPHA:247245
Scorpion Envenomation
Mydriasis, Increased circulating NT-proBNP concentration, Hypokalemia, Increased circulating crea... ORPHA:466677
Cutis Marmorata Telangiectatica Congenita
Leukocoria ORPHA:1556
Retinoblastoma
Leukocoria OMIM:180200
Witteveen-Kolk Syndrome
Anisocoria, Iris coloboma OMIM:613406
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating ferritin concentration, Abnormal blood inorganic cation concentration, Hype... ORPHA:309854
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Elevated hepatic iron concentration ORPHA:231222
Cocaine Intoxication
Elevated circulating creatine kinase concentration, Mydriasis ORPHA:90068
Arachnoid Cyst
Mydriasis ORPHA:2356
Trichohepatoenteric Syndrome 1
Increased serum iron, Abnormality of iron homeostasis, Hypermethioninemia, Hypoalbuminemia OMIM:222470
Alternating Hemiplegia Of Childhood
Mydriasis ORPHA:2131
Dominant Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:231226
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Keratoconus, Hypokalemia ORPHA:286
Beta-Thalassemia Major
Abnormality of iron homeostasis ORPHA:231214
Sponastrime Dysplasia
Microcoria, Congenital aphakia, Cataract ORPHA:93357
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Syndromic Diarrhea
Abnormality of iron homeostasis ORPHA:84064
Plague
Mydriasis, Conjunctival hyperemia ORPHA:707
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
OMIM:614501

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 Snip1

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 Snip1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Snip1tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Snip1tm1a(EUCOMM)Wtsi PMC6459510
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Nature communications (April 2014) Snip1tm1a(EUCOMM)Wtsi PMC3996542

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MGI Allele Allele Type Produced
Snip1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Snip1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Snip1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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