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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele OMIM:182940
Spina bifida, Holoprosencephaly, Hydrocephalus ORPHA:945
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida ORPHA:63260
Subependymal Nodular Heterotopia
Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele ORPHA:101030
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Meckel Syndrome, Type 2
Meningocele, Anencephaly, Encephalocele, Intrauterine growth retardation OMIM:603194
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Spinal dysraphism, Encephalocele, Short stature, Anencephaly, Hydrocephalus, Holopro... ORPHA:1908
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Intrauterine growth retardation OMIM:611134
Schisis Association
Spina bifida, Anencephaly, Encephalocele ORPHA:63862
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy OMIM:207950
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Wildervanck Syndrome
Meningocele ORPHA:3456
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Humero-Radial Synostosis
Meningocele ORPHA:3265
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Intrauterine growth retardation, Short stature ORPHA:1327
Spina bifida, Sirenomelia ORPHA:3169
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Meningocele, Holoprosencephaly, Hydrocephalus, Intrauterine growth retardation ORPHA:3376
Posterior Meningocele
Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele ORPHA:268810
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Short stature, Spina bifida occulta, Intrauterine growth retardation, Umbilical hernia ORPHA:2311
Cerebrocostomandibular Syndrome
Meningocele, Myelomeningocele, Short stature, Spina bifida, Hydranencephaly, Intrauterine growth ... ORPHA:1393
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Czeizel-Losonci Syndrome
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida ORPHA:2437
Fountain Syndrome
Spina bifida occulta, Short stature, Spina bifida ORPHA:3219
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Joubert Syndrome 14
Meningocele, Hydrocephalus, Encephalocele, Growth delay OMIM:614424
Pelvis-Shoulder Dysplasia
Mesomelic/rhizomelic limb shortening, Short stature, Spina bifida, Hydrocephalus, Hydranencephaly... ORPHA:2839
Sacral Defect With Anterior Meningocele
Meningocele, Myelomeningocele, Hydrocephalus, Myeloschisis, Dermal sinus tract OMIM:600145
Spinal dysraphism, Encephalocele, Myelomeningocele, Rhizomelia, Spina bifida, Anencephaly, Hydroc... ORPHA:63259
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Short stature ORPHA:2031
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Neu-Laxova Syndrome 2
Spina bifida, Intrauterine growth retardation OMIM:616038
Arnold-Chiari Malformation Type Ii
Meningocele, Hydrocephalus, Myelomeningocele, Aqueductal stenosis ORPHA:1136
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Vacterl With Hydrocephalus
Aqueductal stenosis, Spina bifida, Arrhinencephaly, Hydrocephalus, Intrauterine growth retardation ORPHA:3412
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Lateral Meningocele Syndrome
Meningocele, Short stature, Hydrocephalus, Umbilical hernia OMIM:130720
Trisomy 18
Short stature, Spina bifida, Anencephaly, Holoprosencephaly, Growth delay, Intrauterine growth re... ORPHA:3380
Lateral Meningocele Syndrome
Meningocele, Umbilical hernia ORPHA:2789
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Mosaic Trisomy 9
Spina bifida, Intrauterine growth retardation ORPHA:99776
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Meningocele, Intrauterine growth retardation ORPHA:46059
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Rhizomelic arm shortening, Rhizomelic leg shortening, Short stature, Occipital encep... ORPHA:397715
Neu-Laxova Syndrome
Spina bifida, Intrauterine growth retardation ORPHA:2671
Phocomelia, Schinzel Type
Meningocele, Disproportionate short stature, Intrauterine growth retardation ORPHA:2879
Nail-Patella Syndrome
Spina bifida, Short stature OMIM:161200
Pagod Syndrome
Meningocele, Short stature, Encephalocele, Spina bifida ORPHA:991
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Spina bifida, Short umbilical cord, Anencephaly, Hydrocephalus, ... ORPHA:2369
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Focal Dermal Hypoplasia
Spina bifida, Umbilical hernia ORPHA:2092
Fibular Hemimelia
Spina bifida ORPHA:93323
Hallermann-Streiff Syndrome
Spina bifida, Proportionate short stature OMIM:234100
Orofaciodigital Syndrome Vi
Arrhinencephaly, Occipital meningocele, Short stature OMIM:277170
22Q11.2 Deletion Syndrome
Meningocele, Short stature, Spina bifida, Arrhinencephaly, Hydrocephalus, Occipital myelomeningoc... ORPHA:567
Jacobsen Syndrome
Spina bifida, Growth delay, Intrauterine growth retardation, Short stature ORPHA:2308
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis, Short stature OMIM:162200
Basal Cell Nevus Syndrome 1
Spina bifida, Hydrocephalus OMIM:109400
Neu-Laxova Syndrome 1
Spina bifida, Short umbilical cord, Hydranencephaly, Stillbirth, Small placenta, Neonatal death, ... OMIM:256520
Fanconi Anemia
Short stature, Spina bifida, Hydrocephalus, Growth delay, Intrauterine growth retardation, Umbili... ORPHA:84
Holoprosencephaly 7
Hydrocephalus, Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosencephaly, Ho... OMIM:610828
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Short stature ORPHA:508498
Split Cord Malformation
Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele ORPHA:573278
Aicardi Syndrome
Spina bifida, Postnatal growth retardation OMIM:304050
Campomelic Dysplasia
Spinal dysraphism, Spina bifida, Hydrocephalus, Disproportionate short-limb short stature, Neonat... OMIM:114290
Thrombocytopenia-Absent Radius Syndrome
Spina bifida, Short stature OMIM:274000
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
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
Rubinstein-Taybi Syndrome 1
Short stature, Spina bifida, Spina bifida occulta, Growth delay, Postnatal growth retardation OMIM:180849
Vater/Vacterl Association
Spina bifida, Patent urachus, Occipital encephalocele, Intrauterine growth retardation, Postnatal... OMIM:192350
Arima Syndrome
Occipital meningocele, Growth delay OMIM:243910
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Occipital meningocele OMIM:267750
Otopalatodigital Syndrome, Type Ii
Short stature, Spina bifida, Hydrocephalus, Stillbirth, Umbilical hernia, Postnatal growth retard... OMIM:304120
Marfan Syndrome
Meningocele ORPHA:558
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Disproportionate short stature, Occipital meningocele OMIM:276820


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
Sp2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sp2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Sp2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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