Not currently registered for phenotyping at IMPC

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

Gene Summary

Sp2 transcription factor

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Sp2 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 Sp2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Growth delay, Cervical spina bifida, Postnatal growth retardation OMIM:600122
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida, Short stature ORPHA:1327
Schisis Association
Spina bifida, Anencephaly ORPHA:63862
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus OMIM:207950
Spina bifida, Sirenomelia ORPHA:3169
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Cerebrocostomandibular Syndrome
Spina bifida, Meningocele, Hydranencephaly, Short stature, Intrauterine growth retardation, Myelo... ORPHA:1393
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Fountain Syndrome
Spina bifida, Short stature, Spina bifida occulta ORPHA:3219
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Pelvis-Shoulder Dysplasia
Spina bifida, Mesomelic/rhizomelic limb shortening, Hydranencephaly, Short stature, Neonatal shor... ORPHA:2839
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Spina bifida, Rhizomelia, Holoprosencephaly, Spinal dysraphism, Anencephaly, Myelomeningocele, Hy... ORPHA:63259
Vacterl With Hydrocephalus
Spina bifida, Arrhinencephaly, Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus ORPHA:3412
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Trisomy 18
Spina bifida, Holoprosencephaly, Growth delay, Anencephaly, Short stature, Intrauterine growth re... ORPHA:3380
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Mosaic Trisomy 9
Intrauterine growth retardation, Spina bifida ORPHA:99776
Hallermann-Streiff Syndrome
Spina bifida, Proportionate short stature OMIM:234100
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Nail-Patella Syndrome
Spina bifida, Short stature OMIM:161200
Fibular Hemimelia
Spina bifida ORPHA:93323
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Pagod Syndrome
Meningocele, Spina bifida, Short stature ORPHA:991
Jacobsen Syndrome
Intrauterine growth retardation, Spina bifida, Short stature, Growth delay ORPHA:2308
Neu-Laxova Syndrome 1
Spina bifida, Short umbilical cord, Stillbirth, Hydranencephaly, Intrauterine growth retardation,... OMIM:256520
Focal Dermal Hypoplasia
Spina bifida, Umbilical hernia ORPHA:2092
Basal Cell Nevus Syndrome
Spina bifida, Hydrocephalus OMIM:109400
Limb Body Wall Complex
Spina bifida, Short umbilical cord, Anencephaly, Spina bifida occulta, Myelomeningocele, Hydrocep... ORPHA:2369
Neurofibromatosis, Type I
Aqueductal stenosis, Spina bifida, Hydrocephalus, Short stature OMIM:162200
22Q11.2 Deletion Syndrome
Spina bifida, Arrhinencephaly, Umbilical hernia, Meningocele, Short stature, Intrauterine growth ... ORPHA:567
Fanconi Anemia
Spina bifida, Growth delay, Umbilical hernia, Short stature, Intrauterine growth retardation, Hyd... ORPHA:84
Thrombocytopenia-Absent Radius Syndrome
Spina bifida, Short stature OMIM:274000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Short stature ORPHA:508498
Aicardi Syndrome
Spina bifida, Postnatal growth retardation OMIM:304050
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Hydrocephalus, Postnatal growth retardation ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Hydrocephalus, Postnatal growth retardation ORPHA:363958
Alobar Holoprosencephaly
Growth delay, Hydrocephalus, Short stature, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Growth delay, Hydrocephalus, Short stature, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Growth delay, Hydrocephalus, Short stature, Neural tube defect ORPHA:93924
Semilobar Holoprosencephaly
Growth delay, Hydrocephalus, Short stature, Neural tube defect ORPHA:220386
Vater/Vacterl Association
Intrauterine growth retardation, Spina bifida, Patent urachus, Postnatal growth retardation OMIM:192350
Schinzel-Giedion Syndrome
Umbilical hernia, Neural tube defect ORPHA:798
Split Cord Malformation
Cervical spina bifida, Meningocele, Lipomyelomeningocele, Myelomeningocele, Hydrocephalus ORPHA:573278
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus ORPHA:322


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 Sp2

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 Sp2.

No publications found that use IMPC mice or data for Sp2.

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MGI Allele Allele Type Produced
Sp2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Sp2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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