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Gene: Sp1 MGI:98372

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
trans-acting transcription factor 1
Synonyms:
Sp1-1,  1110003E12Rik

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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.

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.

Phenotype associated images not available

Human diseases caused by Sp1 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 Sp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Anencephaly 2
Anophthalmia OMIM:619452
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Trisomy 13
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:3378
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Matthew-Wood Syndrome
Abnormal spleen morphology, Anophthalmia, Microphthalmia ORPHA:2470
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Trisomy 1Q
Anophthalmia ORPHA:261344
Cockayne Syndrome Type 1
Anemia, Anophthalmia ORPHA:90321
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen, Anophthalmia, Bilateral microphthalmos OMIM:601186
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Fibular Hemimelia
Anophthalmia, Thrombocytopenia ORPHA:93323
Microphthalmia, Syndromic 3
Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:206900
Vacterl With Hydrocephalus
Anophthalmia, Microphthalmia ORPHA:3412
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia ORPHA:1101
Holoprosencephaly
Abnormality of the spleen, Anophthalmia, Microphthalmia ORPHA:2162
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Anophthalmia, Microphthalmia ORPHA:2538
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Meckel Syndrome
Accessory spleen, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Asplenia ORPHA:564
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukemia, Anophthalmia, Microphthalmia ORPHA:2526
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Joubert Syndrome 21
Splenomegaly, Anophthalmia OMIM:615636
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Microphthalmia ORPHA:2556
Holoprosencephaly 9
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610829
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Charge Syndrome
Anophthalmia, Microphthalmia ORPHA:138
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Microphthalmia, Syndromic 2
Anophthalmia, Microphthalmia OMIM:300166
Focal Dermal Hypoplasia
Aniridia, Anophthalmia, Microphthalmia OMIM:305600
Microphthalmia With Limb Anomalies
True anophthalmia, Microphthalmia ORPHA:1106
Fraser Syndrome
Anophthalmia, Microphthalmia ORPHA:2052
Charge Syndrome
Lymphopenia, Unilateral microphthalmos, Anophthalmia, Microphthalmia OMIM:214800
Microphthalmia, Syndromic 6
Anophthalmia, Microphthalmia OMIM:607932
Branchiooculofacial Syndrome
Anophthalmia, Microphthalmia OMIM:113620
Craniofacial Microsomia 1
Anophthalmia, Microphthalmia OMIM:164210
Microphthalmia, Syndromic 1
Anophthalmia, Microphthalmia OMIM:309800

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 Sp1

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 Sp1.

No publications found that use IMPC mice or data for Sp1.

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
Sp1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Sp1tm119320(L1L2_Pgk_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors
Sp1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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