Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Snip1 MGI:2156003

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	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Snip1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased circulating iron level	Snip1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	2.66×10^-05
abnormal placement of pupils	Snip1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.54×10^-05
decreased circulating total protein level	Snip1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	7.29×10^-08
abnormal tail movements	Snip1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	7.93×10^-06

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	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	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%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
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%
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

Snip1^{tm1a(EUCOMM)Wtsi}
body, HET, Female, WTSI

Snip1^{tm1a(EUCOMM)Wtsi}
head, HET, Female, WTSI

Snip1^{tm1a(EUCOMM)Wtsi}
body, WT, Female, WTSI

Snip1^{tm1a(EUCOMM)Wtsi}
forearm, WT, Female, WTSI

Snip1^{tm1a(EUCOMM)Wtsi}
head, WT, Female, WTSI

View all 314 images

Snip1^{tm1a(EUCOMM)Wtsi}
abnormal epidermis stratum basale morphology, HET, Female, WTSI

Snip1^{tm1a(EUCOMM)Wtsi}
tail skin, WT, Female, WTSI

Snip1^{tm1a(EUCOMM)Wtsi}
abnormal epidermis stratum basale morphology, HET, Female, WTSI

View all 6 images

Snip1^{tm1a(EUCOMM)Wtsi}
back skin, WT, Female, WTSI

Snip1^{tm1a(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.

Human diseases associated with Snip1 (1 diseases)
Human diseases predicted to be associated with Snip1 (170 diseases)

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	Matching phenotypes	Source
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	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	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat...	ORPHA:254704
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia, Chorioretinal coloboma	ORPHA:1116
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology, Elevated circulating creatine kinase concentration	ORPHA:101082
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Elevated circulating creatine kinase concentration	OMIM:160565
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Elevated transferrin saturation	OMIM:205950
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Congenital Disorder Of Glycosylation, Type Ij	Cataract, Hypoproteinemia	OMIM:608093
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron	OMIM:603358
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation	ORPHA:85167
Pierson Syndrome	Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris...	OMIM:609049
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle	OMIM:156600
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Ectopia pupillae, Astigmatism, Cataract	OMIM:618727
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Dengue Fever	Hypoproteinemia	ORPHA:99828
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microcornea, Ectopia pupillae, Cataract, Sclerocornea	OMIM:615877
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Facial Spasm	Anisocoria	OMIM:134300
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation	ORPHA:54
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron	ORPHA:446
Johanson-Blizzard Syndrome	Hypoproteinemia	ORPHA:2315
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe...	OMIM:221900
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria, Developmental cat...	OMIM:175780
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hypoproteinemia, Elevated circulating creatine kinase concentration	OMIM:615895
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoproteinemia...	ORPHA:167
Hjv Or Hamp-Related Hemochromatosis	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro...	ORPHA:79230
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Ectopia pupillae	OMIM:618223
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Alexander Disease	Microcoria	OMIM:203450
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis	OMIM:231100
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Phacoanaphylactic Uveitis	Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo...	ORPHA:209959
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo...	ORPHA:3163
Uveal Melanoma	Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis	ORPHA:39044
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Hemochromatosis, Type 2B	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron	OMIM:613313
Hec Syndrome	Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Coats Disease	Leukocoria	OMIM:300216
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased serum iron, Elevated hepatic iron concentration	OMIM:206100
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Familial Dysautonomia	Hyponatremia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Heterochromia iridis	ORPHA:1764
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis	ORPHA:75563
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Elevated transferrin saturation, Cataract	OMIM:606069
Wolf-Hirschhorn Syndrome	Ectopia pupillae, Iris coloboma, Rieger anomaly	OMIM:194190
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron	OMIM:604250
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	ORPHA:766
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract	OMIM:619649
Gracile Syndrome	Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ...	ORPHA:53693
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal circulating phytanic acid concentration, Mydriasis	ORPHA:247815
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Proteus-Like Syndrome	Limbal dermoid, Abnormal pupil morphology, Cataract, Heterochromia iridis	ORPHA:2969
Mowat-Wilson Syndrome	Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris coloboma	OMIM:235730
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Persistent pupillary m...	OMIM:613150
Aceruloplasminemia	Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron	OMIM:604290
Duane Retraction Syndrome	Central heterochromia, Abnormal pupil morphology, Microcornea, Hypoplastic iris stroma, Chorioret...	ORPHA:233
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Oculopalatocerebral Syndrome	Leukocoria	OMIM:257910
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Infant Botulism	Hyponatremia, Keratoconjunctivitis sicca, Mydriasis	ORPHA:178478
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated hepatic i...	OMIM:615234
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Abnormal pupil morphology, Microcornea, Ectopia pupillae, Astigmatism, Ax...	ORPHA:261552
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Miller Fisher Syndrome	Anisocoria, Mydriasis	ORPHA:98919
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Cataract, Persistent pupillary membrane	OMIM:257850
Intestinal Botulism	Mydriasis	ORPHA:178481
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Abnormal pupil morphology	ORPHA:90658
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Chorioretinal dysplasia, Abnormal pupil m...	ORPHA:534
Congenital Fibrosis Of Extraocular Muscles	Anisocoria, Abnormal pupil shape, Cataract	ORPHA:45358
Iatrogenic Botulism	Mydriasis	ORPHA:254509
Wound Botulism	Mydriasis	ORPHA:178475
Inhalational Botulism	Mydriasis	ORPHA:254504
Nephronophthisis 11	Anisocoria	OMIM:613550
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Decreased transferrin saturation, Increased circulating ferritin concentration, Increased serum i...	ORPHA:300298
Juvenile Polyposis Syndrome	Hypoproteinemia	ORPHA:2929
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria	OMIM:231550
Trichinellosis	Anisocoria, Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology	ORPHA:863
Beta-Thalassemia	Abnormality of iron homeostasis	ORPHA:848
Botulism	Mydriasis	ORPHA:1267
Leptospirosis	Chorioretinitis, Hyperproteinemia, Uveitis, Conjunctival hyperemia	ORPHA:509
Revesz Syndrome	Megalocornea, Leukocoria	OMIM:268130
Foodborne Botulism	Mydriasis	ORPHA:228371
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria	ORPHA:2714
Knobloch Syndrome 1	Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L...	OMIM:267750
Pituitary Apoplexy	Hyponatremia, Mydriasis	ORPHA:95613
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia, Mydriasis	OMIM:259720
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria	OMIM:615510
Norrie Disease	Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,...	ORPHA:649
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro...	ORPHA:465508
Scalp-Ear-Nipple Syndrome	Anisocoria, Cataract, Iris coloboma, Developmental cataract	OMIM:181270
Charcot-Marie-Tooth Disease Type 4C	Anisocoria	ORPHA:99949
Retinoblastoma	Hypopyon, Heterochromia iridis, Leukocoria, Uveitis	ORPHA:790
Bickerstaff Brainstem Encephalitis	Anisocoria, Mydriasis	ORPHA:79138
Serotonin Syndrome	Mydriasis	ORPHA:43116
Superficial Siderosis	Anisocoria	ORPHA:247245
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anisocoria	OMIM:618653
Cutis Marmorata Telangiectatica Congenita	Leukocoria	ORPHA:1556
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Elevated hepatic iron concentration	ORPHA:231222
Scorpion Envenomation	Hypokalemia, Increased circulating NT-proBNP concentration, Mydriasis, Increased circulating crea...	ORPHA:466677
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Hyperglycinemia, Increased total iron binding capa...	ORPHA:309854
Retinoblastoma	Leukocoria	OMIM:180200
Arachnoid Cyst	Mydriasis	ORPHA:2356
Cocaine Intoxication	Elevated circulating creatine kinase concentration, Mydriasis	ORPHA:90068
Multisystemic Smooth Muscle Dysfunction Syndrome	Mydriasis	OMIM:613834
Trichohepatoenteric Syndrome 1	Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis	OMIM:222470
Alternating Hemiplegia Of Childhood	Mydriasis	ORPHA:2131
Witteveen-Kolk Syndrome	Anisocoria, Cataract, Iris coloboma	OMIM:613406
Dominant Beta-Thalassemia	Abnormality of iron homeostasis	ORPHA:231226
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Mydriasis	OMIM:619351
Vascular Ehlers-Danlos Syndrome	Keratoconus, Hypokalemia, Abnormal pupil morphology	ORPHA:286
Beta-Thalassemia Major	Abnormality of iron homeostasis	ORPHA:231214
Sponastrime Dysplasia	Microcoria, Cataract, Congenital aphakia	ORPHA:93357
Craniotubular Dysplasia, Ikegawa Type	Mydriasis	OMIM:619727
Syndromic Diarrhea	Abnormality of iron homeostasis	ORPHA:84064
Plague	Conjunctival hyperemia, Mydriasis	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)	Snip1^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Snip1^{tm1a(EUCOMM)Wtsi}	PMC6459510
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.	Nature communications (April 2014)	Snip1^{tm1a(EUCOMM)Wtsi}	PMC3996542

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
Snip1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Snip1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Snip1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us