Gene Summary

Name:
2'-5' oligoadenylate synthetase 1C
Synonyms:
Oasl5

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
enlarged thymus Oas1cem1(IMPC)Ccpcz HOM Early adult 0.00
anophthalmia Oas1cem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Oas1cem1(IMPC)Ccpcz HOM Early adult 0.00
small spleen Oas1cem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Oas1cem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal tooth morphology Oas1cem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal eye morphology Oas1cem1(IMPC)Ccpcz HOM Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

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 Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

Human diseases caused by Oas1c 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 Oas1c by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042

The table below shows human diseases predicted to be associated to Oas1c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft OMIM:611638
Microphthalmia, Syndromic 12
Anophthalmia, Micrognathia, Cryptorchidism, Cleft palate, Microphthalmia, Retrognathia OMIM:615524
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Anencephaly 2
Anophthalmia, Median cleft palate, Median cleft lip, Cleft maxillary alveolar ridge OMIM:619452
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Oculocerebrocutaneous Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia, Cleft palate OMIM:164180
Cockayne Syndrome Type 2
Mandibular prognathia, Hepatomegaly, Anophthalmia, Delayed eruption of primary teeth, Cryptorchid... ORPHA:90322
Hydrolethalus
Anophthalmia, Micrognathia, Cryptorchidism, Submucous cleft hard palate, Gingival cleft, Cleft pa... ORPHA:2189
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Mic... ORPHA:2470
Solitary Median Maxillary Central Incisor
Anophthalmia, Decreased response to growth hormone stimulation test, Cleft upper lip, Prominent m... OMIM:147250
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Abnormal spaced incisors, Everted lower lip vermilion, Thick vermilion border, Shor... ORPHA:411986
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... ORPHA:2791
Cerebrooculonasal Syndrome
Anophthalmia, High palate, Widely spaced teeth, Solitary median maxillary central incisor, Long p... ORPHA:66625
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia, Cleft palate, Cleft upper lip OMIM:613885
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Trisomy 13
Anophthalmia, Median cleft lip, Abnormality of the dentition, Cryptorchidism, High, narrow palate... ORPHA:3378
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Isolated Anencephaly
Cleft lip, Thymus hyperplasia ORPHA:563609
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Holoprosencephaly 9
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... OMIM:610829
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ... OMIM:610125
Gracile Bone Dysplasia
Asplenia, Aniridia, Microphthalmia, Hypoplastic spleen, Ankyloglossia OMIM:602361
Anophthalmia Plus Syndrome
Non-midline cleft lip, Anophthalmia, Cleft palate, Bilateral cleft lip and palate ORPHA:1104
Cockayne Syndrome Type 1
Mandibular prognathia, Hepatomegaly, Anophthalmia, Delayed eruption of primary teeth, Abnormality... ORPHA:90321
Microphthalmia With Limb Anomalies
Anophthalmia, Unilateral cryptorchidism, Cleft upper lip, Deep philtrum, Cleft palate, High palat... OMIM:206920
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Cryptorchidism, Anophthalmia, High palate ORPHA:139471
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Microphthalmia, Syndromic 9
Anophthalmia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Hypo... OMIM:601186
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Failure of eruption of permanent teeth, Cryptorchidism, Submucous cleft hard palate... ORPHA:2250
Meckel Syndrome
Accessory spleen, Anophthalmia, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Micrognath... ORPHA:564
Trisomy 1Q
Microretrognathia, Anophthalmia, Cryptorchidism, Cleft palate, Narrow mouth ORPHA:261344
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Hypoplastic spleen ORPHA:89844
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Walker-Warburg Syndrome
Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula ORPHA:899
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice, Exocrine pa... OMIM:612714
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia ORPHA:77298
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Short philtrum, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Anophthalmia, Hypoplasia of the maxilla, Cryptorchidism, High, narrow pala... ORPHA:1101
Holoprosencephaly
Anophthalmia, Median cleft lip, Bilateral cleft lip, Cryptorchidism, Abnormality of the spleen, D... ORPHA:2162
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia, Narrow palate, Cleft palate, Downturned corners of mouth, H... OMIM:605627
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi... ORPHA:2969
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ... OMIM:259710
Vacterl With Hydrocephalus
Anophthalmia, Micrognathia, Cryptorchidism, Microphthalmia, Retrognathia ORPHA:3412
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Joubert Syndrome 21
Splenomegaly, Anophthalmia, Chronic sinusitis OMIM:615636
Oslam Syndrome
Carious teeth, Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Anterior pituitary hypoplasia, Micrognathia, Cryptorchidism, D... ORPHA:264200
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormality of the spleen, Anophthalmia, Hepatomegaly ORPHA:2538
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Anophthalmia, Persistence of primary teeth, Cryptorchidism, Supernumer... OMIM:300166
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Long philtrum OMIM:615877
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Cryptor... OMIM:206900
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Abnormal paranasal sinus... ORPHA:141099
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Micrognathia OMIM:619036
Fibular Hemimelia
Anophthalmia, Thrombocytopenia ORPHA:93323
Fraser Syndrome 1
Anophthalmia, Dental crowding, Cleft upper lip, Cryptorchidism, Bilateral microphthalmos, Dental ... OMIM:219000
Microphthalmia With Limb Anomalies
Macrodontia, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla, Cryptorchidis... ORPHA:1106
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Thick vermilion border, Long philtrum, Microphthalmia, Leukemia ORPHA:2526
Mirage Syndrome
Cryptorchidism, Thrombocytopenia, Leukopenia, Hypoplastic spleen, Lymphopenia, Decreased testicul... OMIM:617053
Focal Dermal Hypoplasia
Delayed eruption of teeth, Anophthalmia, Supernumerary nipple, Cleft upper lip, Cryptorchidism, D... OMIM:305600
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Abnormal dental enamel morphology, Micrognathia, Retrognathia, Mandibular aplasia, ... ORPHA:2556
Charge Syndrome
Delayed eruption of teeth, Anophthalmia, Cleft upper lip, Abnormal soft palate morphology, Crypto... ORPHA:138
Fraser Syndrome
Anophthalmia, Dental crowding, Cleft upper lip, Cryptorchidism, Dental malocclusion, Orofacial cl... ORPHA:2052
Branchiooculofacial Syndrome
Anophthalmia, Supernumerary nipple, Micrognathia, Cleft upper lip, Cryptorchidism, Lower lip pit,... OMIM:113620
Charge Syndrome
Hypoparathyroidism, Anophthalmia, Decreased response to growth hormone stimulation test, Cleft up... OMIM:214800
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Decreased r... ORPHA:699
Microphthalmia, Syndromic 6
Anophthalmia, Micrognathia, Cryptorchidism, Microglossia, Cleft palate, High palate, Microphthalm... OMIM:607932
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Microphthalmia, Syndromic 1
Anophthalmia, Dental crowding, Cleft upper lip, Cryptorchidism, High, narrow palate, Orofacial cl... OMIM:309800
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Enlarged polycystic o... ORPHA:744
Craniofacial Microsomia 1
Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Cleft palate, Wide mouth,... OMIM:164210
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042

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 Oas1c

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 Oas1c.

No publications found that use IMPC mice or data for Oas1c.

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MGI Allele Allele Type Produced
Oas1cem1(IMPC)Ccpcz Exon Deletion Mice

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